Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
RCV000211551 | SCV000212205 | likely benign | Aortic aneurysm, familial thoracic 6 | 2015-03-11 | criteria provided, single submitter | research | |
Gene |
RCV001092816 | SCV000234830 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28600387, 25500235, 25188385, 30122538, 32859249) |
Ambry Genetics | RCV000253974 | SCV000317314 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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, |
RCV000625176 | SCV000395189 | uncertain significance | Aortic aneurysm, familial thoracic 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Genome Diagnostics Laboratory, |
RCV000625176 | SCV000744010 | likely benign | Aortic aneurysm, familial thoracic 4 | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625176 | SCV000745467 | likely benign | Aortic aneurysm, familial thoracic 4 | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000680547 | SCV000807958 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000253974 | SCV000911058 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001092816 | SCV001159811 | likely benign | not provided | 2022-12-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092816 | SCV001249509 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | MYH11: BP4 |
CHEO Genetics Diagnostic Laboratory, |
RCV000253974 | SCV002042918 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000625176 | SCV002945305 | benign | Aortic aneurysm, familial thoracic 4 | 2022-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516856 | SCV003591233 | likely benign | Inborn genetic diseases | 2022-08-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV001092816 | SCV001800412 | likely benign | not provided | no assertion criteria provided | clinical testing |