ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) (rs201164597)

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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 RCV000173819 SCV000224973 uncertain significance not provided 2017-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765289 SCV000896544 uncertain significance Branched-chain keto acid dehydrogenase kinase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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