ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=)

gnomAD frequency: 0.00002  dbSNP: rs747837371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369808 SCV000341337 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Invitae RCV001469643 SCV001673723 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338850 SCV002634667 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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