ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)

dbSNP: rs147210405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032961 SCV000056734 pathogenic Branched-chain keto acid dehydrogenase kinase deficiency 2012-10-19 no assertion criteria provided literature only

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