ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) (rs188336294)

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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 RCV000724788 SCV000228138 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000245570 SCV000514590 benign not specified 2015-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000303895 SCV000418375 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363811 SCV000418376 likely benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269220 SCV000418377 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328846 SCV000418378 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364899 SCV000418379 likely benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274820 SCV000418380 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329912 SCV000418381 likely benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465633 SCV000559254 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-12-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245570 SCV000309318 likely benign not specified criteria provided, single submitter clinical testing

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