ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe)

dbSNP: rs1060499607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477875 SCV000536887 uncertain significance Developmental and epileptic encephalopathy, 26 2016-04-08 no assertion criteria provided research
Kearney Laboratory, Northwestern University Feinberg School of Medicine RCV003320443 SCV004024579 not provided not provided no assertion provided in vitro

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