ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1202365275
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761470 SCV000891577 likely pathogenic Maple syrup urine disease 2017-12-30 criteria provided, single submitter clinical testing

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