ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.478-15C>T

dbSNP: rs772227275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429033 SCV000523168 likely benign not specified 2016-03-08 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 RCV002062554 SCV002396548 likely benign Maple syrup urine disease 2024-08-23 criteria provided, single submitter clinical testing

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