ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) (rs4369876)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080039 SCV000111933 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080039 SCV000152672 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 RCV000372211 SCV000418508 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280007 SCV000418509 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318755 SCV000418510 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375717 SCV000418511 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284177 SCV000418512 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341481 SCV000418513 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389941 SCV000418514 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469131 SCV000559260 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-08-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080039 SCV000309312 likely benign not specified criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490436 SCV000267491 uncertain significance Primary erythromelalgia 2016-03-18 criteria provided, single submitter reference population

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