ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3415-9G>T

gnomAD frequency: 0.00001  dbSNP: rs199802986
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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 RCV000147624 SCV000195073 uncertain significance Developmental and epileptic encephalopathy, 5 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001704071 SCV000523657 likely benign not provided 2019-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000459404 SCV000562977 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147624 SCV002056556 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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