ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln)

gnomAD frequency: 0.00007  dbSNP: rs560719289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705053 SCV000243173 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Invitae RCV000818636 SCV000959260 benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808523 SCV002056710 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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