ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1122C>T (p.Asp374=)

gnomAD frequency: 0.00005  dbSNP: rs372504234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612692 SCV000728284 likely benign not specified 2018-03-12 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 RCV000944400 SCV001090370 benign Isovaleryl-CoA dehydrogenase deficiency 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944400 SCV001456712 likely benign Isovaleryl-CoA dehydrogenase deficiency 2020-04-17 no assertion criteria provided clinical testing

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