Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126952 | SCV000170483 | benign | not specified | 2013-12-19 | 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. |
Ambry Genetics | RCV000245430 | SCV000320484 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-11-11 | 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. |
Illumina Laboratory Services, |
RCV000245430 | SCV000395257 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001081210 | SCV000556084 | benign | Aortic aneurysm, familial thoracic 4 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589993 | SCV000697646 | benign | not provided | 2016-03-18 | criteria provided, single submitter | clinical testing | Variant summary: The c.4527C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant does not affect any ESE site. This variant is found in 332/121398 control chromosomes (2 homozygotes) at a frequency of 0.0027348, which is about 2188 times of the maximal expected frequency of a pathogenic allele (0.0000013), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign. |
Center for Human Genetics, |
RCV000659920 | SCV000781824 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000245430 | SCV000902963 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001081210 | SCV001279813 | likely benign | Aortic aneurysm, familial thoracic 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
CHEO Genetics Diagnostic Laboratory, |
RCV000245430 | SCV001333421 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000245430 | SCV004821208 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-02-05 | criteria provided, single submitter | clinical testing |