ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) (rs17766354)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000547729 SCV000387520 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.
Invitae RCV000547729 SCV000648854 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000547729 SCV000744048 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713705 SCV000844332 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118515 SCV000152921 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.

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