ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs398123514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723468 SCV000111138 uncertain significance not provided 2013-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000079268 SCV000536415 likely benign not specified 2017-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079760 SCV001012987 likely benign Maple syrup urine disease 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079760 SCV002032929 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826715 SCV002088169 likely benign Maple syrup urine disease type 1A 2020-02-27 no assertion criteria provided clinical testing

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