ClinVar Miner

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

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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 RCV000178871 SCV000231039 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331310 SCV000418819 likely benign Indifference to pain, congenital, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 RCV000382273 SCV000418823 likely benign Primary erythromelalgia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000144931 SCV000418825 likely benign Paroxysmal extreme pain disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 RCV001081785 SCV000559259 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-12-31 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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