ClinVar Miner

Submissions for variant NM_000709.3(BCKDHA):c.-34T>G

gnomAD frequency: 0.09943  dbSNP: rs45500792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891543 SCV000305432 benign BCKDHA-related disorder 2021-07-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000337766 SCV000413335 likely benign Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000337766 SCV001775091 benign Maple syrup urine disease 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703214 SCV005208428 likely benign not provided criteria provided, single submitter not provided

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