ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.1620C>T (p.Phe540=)

gnomAD frequency: 0.00174  dbSNP: rs142891701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888701 SCV001032352 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586974 SCV005076101 likely benign not specified 2024-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910531 SCV004726276 likely benign F13A1-related disorder 2019-06-11 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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