Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704716 | SCV000714419 | likely benign | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Labcorp Genetics |
RCV001704716 | SCV002359791 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420587 | SCV002721427 | likely benign | Cardiovascular phenotype | 2019-06-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003403416 | SCV004122614 | benign | not specified | 2023-10-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003750809 | SCV004564245 | likely benign | Aortic aneurysm, familial thoracic 9 | 2023-02-15 | criteria provided, single submitter | clinical testing |