ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1999-5del

dbSNP: rs769940455
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194733 SCV000248824 uncertain significance not specified 2014-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311304 SCV000846044 likely benign Inborn genetic diseases 2018-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001711501 SCV001941502 benign not provided 2019-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057017 SCV002375358 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-25 criteria provided, single submitter clinical testing

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