Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124396 | SCV000167829 | benign | not specified | 2013-07-12 | 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. |
Labcorp Genetics |
RCV000232634 | SCV000283466 | benign | Ehlers-Danlos syndrome, type 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000124396 | SCV000302051 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000232634 | SCV000425503 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588223 | SCV000695378 | benign | not provided | 2016-05-02 | criteria provided, single submitter | clinical testing | Variant summary: The COL3A1 c.583-8C>T variant involves the alteration of an intronic non-conserved nucleotide. Mutation taster predicts benign outcome for this substitution. 3/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is found in 225/105268 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.026, including 8 homozygous occurrences. This greatly exceeds the estimated maximal expected allele frequency for a pathogenic variant (0.0000013), suggesting this is a benign polymorphism found primarily in population of African origin. To our knowledge, the variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. One clinical laboratory has classified this variant as Benign via ClinVar (without evidence to independently evaluate). Considering the high prevalence of the variant in the African subpopulation, it was classified as Benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769563 | SCV000900960 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769563 | SCV000904536 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000588223 | SCV001474034 | benign | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000588223 | SCV005242001 | benign | not provided | criteria provided, single submitter | not provided |