ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) (rs200410805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516721 SCV000615133 uncertain significance not specified 2017-04-26 criteria provided, single submitter clinical testing
Invitae RCV001085887 SCV000649371 likely benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727314 SCV000707482 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing

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