ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7309-15T>C

gnomAD frequency: 0.00067  dbSNP: rs370705867
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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 RCV000147659 SCV000195108 uncertain significance Developmental and epileptic encephalopathy, 5 2012-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001668298 SCV001886856 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147659 SCV002056617 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055934 SCV002404113 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-19 criteria provided, single submitter clinical testing

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