ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His)

gnomAD frequency: 0.72882  dbSNP: rs8010911
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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 RCV000118560 SCV000152966 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384721 SCV000387438 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 RCV000993227 SCV001146043 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000384721 SCV001725446 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000993227 SCV001834360 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000384721 SCV002062140 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000993227 SCV005290896 benign not provided criteria provided, single submitter not provided

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