ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)

gnomAD frequency: 0.00001  dbSNP: rs148905512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000209747 SCV000240035 pathogenic Maple syrup urine disease 2010-01-01 criteria provided, single submitter research

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