ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) (rs142542453)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000296147 SCV000344255 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV001088887 SCV000772439 benign Branched-chain keto acid dehydrogenase kinase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000296147 SCV001143738 benign not provided 2019-03-19 criteria provided, single submitter clinical testing

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