ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)

gnomAD frequency: 0.00008  dbSNP: rs756560952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692935 SCV000820786 benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001558002 SCV001779863 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492532)
Genome-Nilou Lab RCV001809755 SCV002056683 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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