Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534617 | SCV000639987 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704671 | SCV000730031 | benign | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279347 | SCV002566345 | likely benign | Ehlers-Danlos syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367849 | SCV002625435 | benign | Inborn genetic diseases | 2019-08-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |