ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.965+18T>C

dbSNP: rs1553492740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614360 SCV000716394 likely benign not specified 2017-02-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062994 SCV002368636 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2021-06-13 criteria provided, single submitter clinical testing

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