ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)

gnomAD frequency: 0.08782  dbSNP: rs2792205
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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) RCV000118502 SCV000336656 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000602383 SCV000387467 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 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.
Athena Diagnostics RCV000993211 SCV001146019 benign not provided 2019-05-02 criteria provided, single submitter clinical testing
Invitae RCV000602383 SCV001718601 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000993211 SCV001887706 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118502 SCV000152908 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 RCV000602383 SCV000733389 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000118502 SCV001918129 benign not specified no assertion criteria provided clinical testing

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