ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6763-7C>T

gnomAD frequency: 0.00001  dbSNP: rs587784439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147654 SCV000195103 uncertain significance Developmental and epileptic encephalopathy, 5 2013-03-04 criteria provided, single submitter clinical testing
Invitae RCV002514842 SCV003299599 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-08-15 criteria provided, single submitter clinical testing

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