ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr)

gnomAD frequency: 0.72634  dbSNP: rs4902264
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118541 SCV000152947 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350785 SCV000387377 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 RCV000993225 SCV001146038 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000350785 SCV001725441 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000993225 SCV001946859 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350785 SCV002062131 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000993225 SCV005290144 benign not provided criteria provided, single submitter not provided

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