ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)

dbSNP: rs398123514
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230169 SCV001402641 likely benign Maple syrup urine disease 2023-10-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833990 SCV002088168 uncertain significance Maple syrup urine disease type 1A 2021-04-12 no assertion criteria provided clinical testing

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