Carrier frequency:β₯1/50 Very common1/50β1/100 Common1/100β1/300 Moderate1/300β1/1000 Uncommon<1/1000 Rare
Condition β
Gene(s) β
Carrier Freq β
Enriched Populations
Inh β
Severity β
System β
ACMG Tier β
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Evidence Base
Source publications for carrier frequencies and clinical data in this tool
1Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793β1806. doi:10.1038/s41436-021-01203-z. PMID: 34285390
Primary source for ACMG tier classification, inclusion criteria (residual risk <1/200 or detection rate β₯90%), and general population carrier frequency thresholds.
2Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013;15(3):178β186. doi:10.1038/gim.2012.114. PMID: 22975760
Empirical carrier frequency data for 400+ variants from a large, ethnically diverse clinical cohort. Primary source for many of the general population and population-specific frequency estimates in this tool.
3Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine β points to consider: a joint statement of ACMG, ACOG, NSGC, PQF, and SMFM. Obstet Gynecol. 2015;125(3):653β662. doi:10.1097/AOG.0000000000000666. PMID: 25730233
Foundational joint society statement establishing the rationale, criteria, and clinical framework for expanded carrier screening in reproductive medicine.
ACOG guidance on pre-test counseling, panel selection, result interpretation, and post-test management. Basis for clinical recommendation language in this tool.
5Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434β443. doi:10.1038/s41586-020-2308-7. PMID: 32461654
gnomAD v2.1.1 β used for population allele frequency estimates, particularly for rarer conditions where published clinical studies have limited sample sizes.
6Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1):54β56. doi:10.1097/GIM.0b013e31815f247c. PMID: 18197051
Carrier frequency data for the standard Ashkenazi Jewish panel conditions (Tay-Sachs, Canavan, Gaucher, familial dysautonomia, Niemann-Pick A, Fanconi anemia C, Bloom syndrome, mucolipidosis IV, and others).
Data confidence note: Carrier frequencies for common conditions (CF, SMA, hemoglobinopathies, GJB2) are derived from large published studies and are well-established. Frequencies for rarer conditions (<1/500) are often estimated from gnomAD allele frequencies or small clinical studies and are flagged with β οΈ in the tool. Commercial expanded carrier screening panels (Natera Horizon, Invitae ECS, Labcorp Verify, GeneDx) include 280β600+ conditions; carrier frequencies for the long tail of rarer conditions are largely from internal lab validation studies and should be interpreted accordingly.
