ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.5020T>C (p.Leu1674=)

gnomAD frequency: 0.00010  dbSNP: rs201666704
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000878959 SCV000387366 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878959 SCV001021952 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-12-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391126 SCV004134223 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SYNE2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003930339 SCV004755337 likely benign SYNE2-related disorder 2019-07-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV003391126 SCV005212133 likely benign not provided criteria provided, single submitter not provided

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