ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)

gnomAD frequency: 0.63267  dbSNP: rs303815
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118283 SCV000312087 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713156 SCV000843735 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715329 SCV000846158 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 RCV001509964 SCV001716883 benign Early infantile epileptic encephalopathy with suppression bursts 2021-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000713156 SCV001870630 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807067 SCV002054581 benign Myoclonus, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807064 SCV002054582 benign Cognitive impairment with or without cerebellar ataxia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807065 SCV002054583 benign Developmental and epileptic encephalopathy, 13 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807066 SCV002054586 benign Seizures, benign familial infantile, 5 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118283 SCV000152655 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 RCV000118283 SCV001742214 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118283 SCV001955220 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118283 SCV001976039 benign not specified no assertion criteria provided clinical testing

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