ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) (rs569997507)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000501169 SCV000597241 uncertain significance not specified 2015-11-05 criteria provided, single submitter clinical testing
Invitae RCV000636397 SCV000757836 likely benign Early infantile epileptic encephalopathy 2019-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718771 SCV000849635 likely benign Seizures 2017-05-24 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656023 SCV000588299 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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