ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.706+9T>C

gnomAD frequency: 0.00041  dbSNP: rs368042270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428567 SCV000527874 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000871016 SCV001012609 likely benign Tyrosinemia type I 2024-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871016 SCV001454594 likely benign Tyrosinemia type I 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003912722 SCV004735633 likely benign FAH-related disorder 2022-08-17 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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