ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)

gnomAD frequency: 0.97933  dbSNP: rs1432794
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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) RCV000118336 SCV000225417 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118336 SCV000314348 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095074 SCV000454563 benign Charcot-Marie-Tooth disease type 4C 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 RCV000405810 SCV000454564 benign Susceptibility to mononeuropathy of the median nerve, mild 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 RCV000118336 SCV000615240 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000362334 SCV001000011 benign Charcot-Marie-Tooth disease type 4 2025-02-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173897 SCV001337013 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001705866 SCV001835418 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095074 SCV002055201 benign Charcot-Marie-Tooth disease type 4C 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000405810 SCV002055203 benign Susceptibility to mononeuropathy of the median nerve, mild 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118336 SCV000152731 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118336 SCV001742126 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000118336 SCV001919528 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118336 SCV001952813 benign not specified no assertion criteria provided clinical testing

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