ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) (rs117070973)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180768 SCV000233256 benign not specified 2015-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000531400 SCV000387576 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442268 SCV000510689 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000180768 SCV000615718 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000531400 SCV000648890 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000531400 SCV000744052 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2016-10-06 criteria provided, single submitter clinical testing

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