ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.957A>G (p.Ser319=)

gnomAD frequency: 0.00028  dbSNP: rs3213841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600369 SCV000727996 likely benign not specified 2018-03-01 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 RCV000884219 SCV001027578 benign 3-hydroxyisobutyryl-CoA hydrolase deficiency 2024-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000884219 SCV002799286 likely benign 3-hydroxyisobutyryl-CoA hydrolase deficiency 2022-02-25 criteria provided, single submitter clinical testing

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