ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.996C>T (p.His332=)

gnomAD frequency: 0.00011  dbSNP: rs182877963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921322 SCV001066723 likely benign Tyrosinemia type I 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902999 SCV004724406 likely benign FAH-related condition 2019-12-26 criteria provided, single submitter 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).
Natera, Inc. RCV000921322 SCV002089843 likely benign Tyrosinemia type I 2020-09-29 no assertion criteria provided clinical testing

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