ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) (rs111674454)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118299 SCV000152673 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
Invitae RCV001079748 SCV000649313 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733530 SCV000861607 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing

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