Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724348 | SCV000231662 | uncertain significance | not provided | 2014-11-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000246302 | SCV000309358 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000724348 | SCV000729413 | likely benign | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001441157 | SCV001644076 | likely benign | Shprintzen-Goldberg syndrome | 2022-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408777 | SCV002719420 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-04-01 | 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. |