ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)

gnomAD frequency: 0.00004  dbSNP: rs587781156
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127947 SCV000171534 benign not specified 2013-10-17 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.
Eurofins Ntd Llc (ga) RCV000726474 SCV000344947 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500454 SCV001705241 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726474 SCV004701498 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SCN2A: BP4, BP7

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