ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)

dbSNP: rs570247500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439776 SCV000524875 likely benign not specified 2016-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001808814 SCV002056679 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV002062688 SCV002437032 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457680 SCV004184827 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTAN1: BP4, BP7, BS1

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