ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) (rs4761829)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118289 SCV000231115 benign not specified 2014-10-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118289 SCV000312089 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713160 SCV000843739 benign not provided 2018-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715321 SCV000846150 benign History of neurodevelopmental disorder 2015-12-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001520527 SCV001729646 benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118289 SCV000152661 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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