ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) (rs34820571)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174194 SCV000225455 likely benign not specified 2015-08-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000559260 SCV000387612 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 RCV000559260 SCV000648912 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000559260 SCV000744054 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000559260 SCV000745506 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2016-01-13 criteria provided, single submitter clinical testing

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