ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) (rs58022607)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756621 SCV000884490 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118294 SCV000225305 benign not specified 2014-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118294 SCV000152666 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 RCV000296851 SCV000418707 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354331 SCV000418708 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275952 SCV000418709 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314578 SCV000418710 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366951 SCV000418711 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274821 SCV000418712 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327548 SCV000418713 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472690 SCV000559275 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-08-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118294 SCV000309301 likely benign not specified criteria provided, single submitter clinical testing

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