ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.296A>G (p.Asp99Gly)

gnomAD frequency: 0.00001  dbSNP: rs547847694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357369 SCV000394048 uncertain significance Hypertyrosinemia 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597442 SCV000709543 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000915774 SCV001060992 likely benign Tyrosinemia type I 2025-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000915774 SCV001454941 uncertain significance Tyrosinemia type I 2019-08-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003930367 SCV004742771 likely benign FAH-related disorder 2019-06-27 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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