ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.933G>A (p.Ala311=)

gnomAD frequency: 0.00001  dbSNP: rs375166793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395421 SCV001597131 likely benign Tyrosinemia type I 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920871 SCV004744644 likely benign FAH-related disorder 2023-07-18 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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