ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.4308+10G>T

gnomAD frequency: 0.00016  dbSNP: rs146718957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177574 SCV000229463 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873174 SCV001015120 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492776 SCV002798569 likely benign Fraser syndrome 1 2021-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917651 SCV004744545 likely benign FRAS1-related disorder 2019-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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