ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)

gnomAD frequency: 0.08329  dbSNP: rs3739927
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176675 SCV000228366 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176675 SCV000312327 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264707 SCV000477773 benign Amyotrophic lateral sclerosis type 4 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 RCV000324607 SCV000477774 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 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.
Athena Diagnostics Inc RCV000713233 SCV000843819 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV001512044 SCV001719384 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000713233 SCV001947851 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000324607 SCV003931477 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000264707 SCV003931489 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176675 SCV001807734 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000176675 SCV001923583 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000176675 SCV001928963 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176675 SCV001951241 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000176675 SCV001976121 benign not specified no assertion criteria provided clinical testing

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