ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)

gnomAD frequency: 0.00003  dbSNP: rs750729027
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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 RCV001454751 SCV001658490 likely benign Maple syrup urine disease 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278571 SCV001465593 uncertain significance Maple syrup urine disease type 1A 2020-08-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953352 SCV004777642 likely benign BCKDHA-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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