ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) (rs77144869)

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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 RCV000118302 SCV000227657 benign not specified 2015-03-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118302 SCV000152676 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 RCV000388896 SCV000418445 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278050 SCV000418446 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316847 SCV000418447 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375964 SCV000418448 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283760 SCV000418449 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341226 SCV000418450 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391455 SCV000418451 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460944 SCV000559279 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-12-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118302 SCV000309314 benign not specified criteria provided, single submitter clinical testing

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