ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.197-2A>G

dbSNP: rs869312127
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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 RCV000209460 SCV000240037 pathogenic Maple syrup urine disease 2012-01-01 criteria provided, single submitter research

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