Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205977 | SCV000261638 | likely benign | Shprintzen-Goldberg syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000507645 | SCV000605111 | uncertain significance | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315636 | SCV000739617 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-06-09 | 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. |
Gene |
RCV001589093 | SCV001816944 | likely benign | not provided | 2022-03-16 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported as a variant of uncertain significance and a likely benign variant by other clinical laboratories in ClinVar but additional evidence is not available (ClinVar Variant ID# 220793; ClinVar) |