ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4148A>G (p.Lys1383Arg)

gnomAD frequency: 0.00005  dbSNP: rs779536952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194859 SCV000248830 uncertain significance not specified 2015-08-04 criteria provided, single submitter clinical testing
Invitae RCV000551270 SCV000649338 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-03-18 criteria provided, single submitter clinical testing

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