ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.995+26C>T

gnomAD frequency: 0.37723  dbSNP: rs284653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079270 SCV000111140 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079270 SCV000305441 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833352 SCV000975115 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001527236 SCV001738187 benign Maple syrup urine disease 2021-06-10 criteria provided, single submitter clinical testing

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