ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)

gnomAD frequency: 0.00019  dbSNP: rs371343548
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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 RCV000887176 SCV001030721 likely benign Maple syrup urine disease 2024-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273311 SCV001456207 uncertain significance Maple syrup urine disease type 1A 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948379 SCV004764776 likely benign BCKDHA-related disorder 2019-10-30 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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