ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.382T>C (p.Leu128=)

gnomAD frequency: 0.00001  dbSNP: rs764651997
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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 RCV001421830 SCV001624362 likely benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358942 SCV002621636 likely benign Inborn genetic diseases 2021-09-16 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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