ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1314+7T>C

gnomAD frequency: 0.00001  dbSNP: rs371482199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173769 SCV000224921 uncertain significance not provided 2014-07-04 criteria provided, single submitter clinical testing
Invitae RCV002054057 SCV002428244 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-06-09 criteria provided, single submitter clinical testing

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