ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter)

dbSNP: rs1984206797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880085 SCV002159945 likely benign Developmental and epileptic encephalopathy, 26 2022-06-05 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264690 SCV001442937 uncertain significance Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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