ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) (rs727503822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152850 SCV000202246 uncertain significance not provided 2014-04-22 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261643 SCV001438942 likely pathogenic Maple syrup urine disease criteria provided, single submitter clinical testing

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