ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) (rs73969684)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178871 SCV000231039 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331310 SCV000418819 likely benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387916 SCV000418820 likely benign Familial febrile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144930 SCV000418821 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325385 SCV000418822 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382273 SCV000418823 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289874 SCV000418824 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144931 SCV000418825 likely benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421273 SCV000511766 likely benign not provided 2016-11-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000178871 SCV000514577 benign not specified 2017-03-20 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.
Invitae RCV000421273 SCV000559259 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000421273 SCV000843757 likely benign not provided 2018-06-07 criteria provided, single submitter clinical testing
OMIM RCV000144930 SCV000191926 pathogenic Small fiber neuropathy 2014-09-01 no assertion criteria provided literature only
OMIM RCV000144931 SCV000191927 pathogenic Paroxysmal extreme pain disorder 2014-09-01 no assertion criteria provided literature only

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