Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502371 | SCV000596701 | uncertain significance | not specified | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311823 | SCV000847120 | benign | Inborn genetic diseases | 2019-01-31 | 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. |
Invitae | RCV001857156 | SCV002303853 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003133287 | SCV003813696 | uncertain significance | Smith-Magenis syndrome | 2019-12-18 | criteria provided, single submitter | clinical testing |