Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000771758 | SCV000317312 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-15 | 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, |
RCV000384960 | SCV000425544 | likely benign | Ehlers-Danlos syndrome, type 4 | 2018-08-17 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Labcorp Genetics |
RCV000384960 | SCV000554700 | benign | Ehlers-Danlos syndrome, type 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771758 | SCV000904416 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000858537 | SCV001153234 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | COL3A1: BP4, BP7 |
ARUP Laboratories, |
RCV000858537 | SCV001472106 | benign | not provided | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000858537 | SCV001942827 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278225 | SCV002565643 | likely benign | Ehlers-Danlos syndrome | 2019-05-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000384960 | SCV004827591 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000858537 | SCV001807830 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000858537 | SCV001973654 | likely benign | not provided | no assertion criteria provided | clinical testing |