Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000514314 | SCV000525845 | benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27377421) |
Center for Pediatric Genomic Medicine, |
RCV000514314 | SCV000610815 | likely benign | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082472 | SCV000647114 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435060 | SCV000916423 | benign | not specified | 2021-01-11 | criteria provided, single submitter | clinical testing | Variant summary: ADAMTS2 c.1993G>A (p.Gly665Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0078 in 251246 control chromosomes in the gnomAD database, including 21 homozygotes. The observed variant frequency is approximately 3 fold of the estimated maximal expected allele frequency for a pathogenic variant in ADAMTS2 causing Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) phenotype (0.0029), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1993G>A in individuals affected with Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Illumina Laboratory Services, |
RCV001082472 | SCV001315710 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 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. |
Ce |
RCV000514314 | SCV002497375 | benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ADAMTS2: BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV002279184 | SCV002565534 | benign | Ehlers-Danlos syndrome | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001082472 | SCV002081941 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-12-09 | no assertion criteria provided | clinical testing |