Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710556 | SCV000840797 | benign | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316007 | SCV000848062 | benign | Inborn genetic diseases | 2016-06-08 | 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 | RCV001083351 | SCV001014770 | benign | KBG syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710556 | SCV001759181 | likely benign | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083351 | SCV002524214 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |