ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)

gnomAD frequency: 0.00096  dbSNP: rs199653503
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725858 SCV000339981 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000264476 SCV000615125 likely benign not specified 2017-06-25 criteria provided, single submitter clinical testing
Invitae RCV001082809 SCV000649300 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000264476 SCV000718097 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002436115 SCV002743660 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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