ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr)

dbSNP: rs377387388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705043 SCV000243073 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Invitae RCV001522146 SCV001731626 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808479 SCV002056638 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977500 SCV004795558 benign SPTAN1-related condition 2023-12-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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