Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124411 | SCV000167844 | benign | not specified | 2012-11-20 | 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, |
RCV000124411 | SCV000268914 | benign | not specified | 2014-11-20 | criteria provided, single submitter | clinical testing | p.Gly748Gly in exon 32 of COL3A1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 29% (2489/8596) of European American chromosomes and 28% (1217/4406) of African American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; d bSNP rs1801184). |
Prevention |
RCV000124411 | SCV000302034 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000775986 | SCV000317699 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-11-24 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Eurofins Ntd Llc |
RCV000124411 | SCV000344294 | benign | not specified | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292059 | SCV000425528 | 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. |
ARUP Laboratories, |
RCV001812009 | SCV000603132 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775986 | SCV000910511 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124411 | SCV001363409 | benign | not specified | 2019-05-01 | criteria provided, single submitter | clinical testing | Variant summary: COL3A1 c.2244T>C alters a non-conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 0.23 in 219808 control chromosomes in the gnomAD database, including 6705 homozygotes, strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.2244T>C in individuals affected with Aortopathy 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. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Labcorp Genetics |
RCV000292059 | SCV001730499 | benign | Ehlers-Danlos syndrome, type 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000292059 | SCV001821891 | benign | Ehlers-Danlos syndrome, type 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001588977 | SCV001821892 | benign | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001812009 | SCV005242042 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV000124411 | SCV001807144 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000124411 | SCV001963780 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000292059 | SCV003836800 | benign | Ehlers-Danlos syndrome, type 4 | 2022-09-23 | no assertion criteria provided | clinical testing |