ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)

dbSNP: rs879255700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200083 SCV001370947 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000239728 SCV001428930 pathogenic Developmental and epileptic encephalopathy, 13 2017-10-14 criteria provided, single submitter clinical testing This variant was identified as de novo
GeneReviews RCV000239728 SCV000298192 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only

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