Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178591 | SCV000230704 | uncertain significance | not provided | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002228789 | SCV000547892 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178591 | SCV001788028 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | Identified by exome sequencing in one individual with a conotruncal heart defect who was compound heterozygous for another variant in the COL5A2 gene (Jin et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28991257) |
Ambry Genetics | RCV002321707 | SCV002609360 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |