Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128393 | SCV000171991 | benign | not specified | 2014-05-28 | 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 |
RCV001000364 | SCV000287903 | benign | Loeys-Dietz syndrome 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000128393 | SCV000309502 | benign | not specified | criteria provided, single submitter | clinical testing | ||
CHEO Genetics Diagnostic Laboratory, |
RCV000769559 | SCV000900956 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000364 | SCV001157110 | benign | Loeys-Dietz syndrome 4 | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001000364 | SCV001258131 | benign | Loeys-Dietz syndrome 4 | 2018-01-12 | 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, |
RCV000128393 | SCV001362851 | benign | not specified | 2019-08-19 | criteria provided, single submitter | clinical testing | Variant summary: TGFB2 c.643+7A>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0034 in 251076 control chromosomes in the gnomAD database, including 20 homozygotes. The observed variant frequency is approximately 270 fold of the estimated maximal expected allele frequency for a pathogenic variant in TGFB2 causing Aortopathy phenotype (1.3e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.643+7A>C in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic variant(s) have been reported at our laboratory (FBN1 c.349C>T, p.Q117*), providing supporting evidence for a benign role. Two 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. |
Genome Diagnostics Laboratory, |
RCV002277277 | SCV002566125 | likely benign | Ehlers-Danlos syndrome | 2022-06-08 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001572650 | SCV005280625 | benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001572650 | SCV001797350 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000128393 | SCV001806978 | benign | not specified | no assertion criteria provided | clinical testing |