ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)

gnomAD frequency: 0.00036  dbSNP: rs142858149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973810 SCV001121590 likely benign Maple syrup urine disease 2024-03-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000973810 SCV003829813 uncertain significance Maple syrup urine disease 2020-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273119 SCV001455720 uncertain significance Maple syrup urine disease type 1B 2020-04-13 no assertion criteria provided clinical testing

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