ClinVar Miner

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

gnomAD frequency: 0.82918  dbSNP: rs4761829
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) 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 2021-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000713160 SCV001848261 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807075 SCV002054559 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807072 SCV002054560 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807073 SCV002054561 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807074 SCV002054563 benign Seizures, benign familial infantile, 5 2021-07-15 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118289 SCV001742549 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118289 SCV001956774 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118289 SCV001973505 benign not specified no assertion criteria provided clinical testing

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