ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2109T>C (p.Val703=)

gnomAD frequency: 0.00033  dbSNP: rs369029348
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468518 SCV000557010 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000600706 SCV000732504 likely benign not specified 2017-12-18 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.
Ambry Genetics RCV002318550 SCV000851118 likely benign Inborn genetic diseases 2016-07-07 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.
CeGaT Center for Human Genetics Tuebingen RCV001724019 SCV004132906 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SCN8A: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724019 SCV001955025 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724019 SCV001968387 likely benign not provided no assertion criteria provided clinical testing

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