ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.485-28G>A

gnomAD frequency: 0.00186  dbSNP: rs114178789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079245 SCV000111115 uncertain significance not provided 2013-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000079245 SCV001795612 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795082 SCV002032862 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing

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