ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) (rs6747673)

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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 RCV000713164 SCV000843743 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118293 SCV000224920 benign not specified 2014-07-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118293 SCV000152665 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 RCV000267710 SCV000418735 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317687 SCV000418736 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372285 SCV000418737 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282544 SCV000418738 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318943 SCV000418739 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387463 SCV000418740 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292831 SCV000418741 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118293 SCV000309299 benign not specified criteria provided, single submitter clinical testing

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