ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu) (rs12478318)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080038 SCV000111932 benign not specified 2013-09-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080038 SCV000152670 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000399125 SCV000418557 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461431 SCV000559256 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-08-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080038 SCV000309308 likely benign not specified criteria provided, single submitter clinical testing

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