ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.344-24C>T

gnomAD frequency: 0.06567  dbSNP: rs73479953
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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) RCV000082739 SCV000114783 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082739 SCV000316839 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530490 SCV001745340 benign Maple syrup urine disease 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001539801 SCV001757613 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539801 SCV005224454 likely benign not provided criteria provided, single submitter not provided

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