ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.197-25A>G

gnomAD frequency: 0.35785  dbSNP: rs9448893
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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) RCV000082731 SCV000114775 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530488 SCV001745337 benign Maple syrup urine disease 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001596957 SCV001831121 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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