ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)

gnomAD frequency: 0.00001  dbSNP: rs780006187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435073 SCV001637892 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409302 SCV002719183 likely benign Inborn genetic diseases 2019-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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