ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)

gnomAD frequency: 0.00016  dbSNP: rs199975643
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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) RCV000724702 SCV000225882 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Invitae RCV000724702 SCV000541265 benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764275 SCV000895291 uncertain significance Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372633 SCV004055483 likely benign Inborn genetic diseases 2023-07-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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