ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3579+3_3579+4dup

gnomAD frequency: 0.00001  dbSNP: rs797046004
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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 RCV000194242 SCV000249024 uncertain significance not specified 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000227034 SCV000286166 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001705092 SCV000568974 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808555 SCV002056557 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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