ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2562+2T>C

dbSNP: rs1574636792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171712 SCV001334542 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Pediatric Genetics Clinic, Sheba Medical Center RCV001788422 SCV001712217 pathogenic Developmental and epileptic encephalopathy, 11 2021-05-13 no assertion criteria provided clinical testing

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