Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710567 | SCV000840809 | uncertain significance | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317935 | SCV000850791 | likely benign | Inborn genetic diseases | 2017-01-12 | 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. |
Invitae | RCV000810332 | SCV000950527 | likely benign | KBG syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710567 | SCV002032662 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710567 | SCV004143436 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4 |