ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) (rs3750904)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080041 SCV000111935 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080041 SCV000152685 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 RCV000348238 SCV000418304 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407719 SCV000418305 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281429 SCV000418306 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338803 SCV000418307 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406081 SCV000418308 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299018 SCV000418309 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342122 SCV000418310 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469934 SCV000559266 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 RCV000080041 SCV000309325 benign not specified criteria provided, single submitter clinical testing

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