ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)

dbSNP: rs386834234
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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) RCV000790721 SCV000225105 pathogenic not provided 2014-07-14 criteria provided, single submitter clinical testing
Counsyl RCV000056007 SCV000486667 likely pathogenic Maple syrup urine disease 2016-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000056007 SCV002033168 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
GeneReviews RCV000056007 SCV000087067 not provided Maple syrup urine disease no assertion provided literature only

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