ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3156-10C>T

gnomAD frequency: 0.00003  dbSNP: rs745910160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195221 SCV000249022 uncertain significance not specified 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV001452672 SCV001656344 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808554 SCV002056554 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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