ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6507G>A (p.Gly2169=)

gnomAD frequency: 0.01300  dbSNP: rs34073320
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242598 SCV000312317 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400042 SCV000477804 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2018-01-13 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 RCV000285100 SCV000477805 benign Amyotrophic lateral sclerosis type 4 2018-01-13 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.
Invitae RCV000527335 SCV000645277 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000527335 SCV000677477 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001589268 SCV001471761 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001589268 SCV001826852 likely benign not provided 2022-09-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848035 SCV002105180 benign Hereditary spastic paraplegia 2022-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000400042 SCV003932068 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000285100 SCV003932069 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000242598 SCV001809247 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000242598 SCV001917818 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000242598 SCV001927867 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242598 SCV001956426 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001589268 SCV001971607 likely benign not provided no assertion criteria provided clinical testing

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