ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4503+8A>T

gnomAD frequency: 0.00001  dbSNP: rs753899025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001419718 SCV001621978 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908614 SCV004724677 likely benign SCN9A-related condition 2019-08-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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