ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.3769-4A>G (rs75230218)

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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 RCV000713171 SCV000843751 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118304 SCV000203529 benign not specified 2014-04-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118304 SCV000152678 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 RCV000266266 SCV000418403 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321146 SCV000418404 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380369 SCV000418405 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286080 SCV000418406 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345747 SCV000418407 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381425 SCV000418408 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291623 SCV000418409 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118304 SCV000309316 benign not specified criteria provided, single submitter clinical testing

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