ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3003T>C (p.Tyr1001=)

dbSNP: rs886038521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253876 SCV000309311 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001463552 SCV001667498 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436084 SCV002749730 likely benign Inborn genetic diseases 2019-07-11 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.

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