Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124404 | SCV000167837 | benign | not specified | 2013-01-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000124404 | SCV000268909 | benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | 1816-14G>C in intron 25 of COL3A1: This variant is not expected to have clinical significance because it has been identified in 20.2% (892/4406) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs7579815). |
Prevention |
RCV000124404 | SCV000302023 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000369336 | SCV000425518 | benign | Ehlers-Danlos syndrome, type 4 | 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. |
Color Diagnostics, |
RCV000771056 | SCV000902565 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000369336 | SCV001821882 | benign | Ehlers-Danlos syndrome, type 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001588974 | SCV001821883 | benign | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000369336 | SCV002406216 | benign | Ehlers-Danlos syndrome, type 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004708001 | SCV005242030 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV000124404 | SCV001808894 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000124404 | SCV001968220 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000369336 | SCV003836765 | benign | Ehlers-Danlos syndrome, type 4 | 2022-09-23 | no assertion criteria provided | clinical testing |