ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.742+16A>G

gnomAD frequency: 0.00220  dbSNP: rs140373763
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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) RCV000723411 SCV000114809 uncertain significance not provided 2013-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000723411 SCV000516969 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23757202)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731370 SCV001983712 benign not specified 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795154 SCV002033121 likely benign Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001795154 SCV002410553 benign Maple syrup urine disease 2024-02-01 criteria provided, single submitter clinical testing

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