ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)

dbSNP: rs769446376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235219 SCV001407895 uncertain significance Maple syrup urine disease 2021-08-31 criteria provided, single submitter clinical testing

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