ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) (rs73019664)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118301 SCV000152675 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517300 SCV000615128 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV001083679 SCV000649326 likely 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 RCV000118301 SCV000707343 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000118301 SCV001788295 likely benign not provided 2019-12-11 no assertion criteria provided clinical testing

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