ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2105-15G>A

gnomAD frequency: 0.12980  dbSNP: rs4525717
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153917 SCV000203533 benign not specified 2014-03-20 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000153917 SCV000309305 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263173 SCV000418629 benign Primary erythromelalgia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000372890 SCV000418631 benign Paroxysmal extreme pain disorder 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000275871 SCV000418632 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385556 SCV000418634 benign Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001707538 SCV001936304 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002056046 SCV002358152 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-02-01 criteria provided, single submitter clinical testing

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