Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180739 | SCV000233224 | uncertain significance | not provided | 2015-05-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000526342 | SCV000387565 | 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 |
RCV000526342 | SCV000648881 | likely benign | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469047 | SCV002766554 | likely benign | not specified | 2022-11-29 | criteria provided, single submitter | clinical testing | Variant summary: SYNE2 c.16718G>A (p.Arg5573Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00082 in 251384 control chromosomes, predominantly at a frequency of 0.0019 within the Latino subpopulation in the gnomAD database, suggesting that it is a benign polymorphism found primarily in individuals of Latino ancestry. To our knowledge, no occurrence of c.16718G>A in individuals affected with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign, one as likely benign, and one classified it as VUS. Based on the evidence outlined above, the variant was classified as likely benign. |
Ce |
RCV000180739 | SCV004134278 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SYNE2: BP4, BS1, BS2 |
Prevention |
RCV003955103 | SCV004773720 | likely benign | SYNE2-related disorder | 2022-12-01 | no assertion criteria provided | 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). |