ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) (rs184773311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725745 SCV000339126 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000313984 SCV000521481 likely benign not specified 2016-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001086204 SCV000559282 likely benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-11-25 criteria provided, single submitter clinical testing

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