ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) (rs13414203)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713162 SCV000843741 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118290 SCV000224917 benign not specified 2015-02-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118290 SCV000152662 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 RCV000384212 SCV000418777 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271006 SCV000418778 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321452 SCV000418779 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376267 SCV000418780 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286417 SCV000418781 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341529 SCV000418782 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372805 SCV000418783 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118290 SCV000309296 benign not specified criteria provided, single submitter clinical testing

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