ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5019T>C (p.Asp1673=)

gnomAD frequency: 0.00009  dbSNP: rs752918053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647821 SCV000769624 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343332 SCV002645637 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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