ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)

dbSNP: rs201985242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079556 SCV000111438 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000079556 SCV000982124 likely benign not provided 2018-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001395407 SCV001597117 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586542 SCV005076487 likely benign not specified 2024-04-25 criteria provided, single submitter clinical testing

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