Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439082 | SCV000512049 | benign | not specified | 2016-03-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000710553 | SCV000840794 | benign | not provided | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311445 | SCV000846574 | benign | Inborn genetic diseases | 2016-05-06 | 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 | RCV001082383 | SCV001006282 | benign | KBG syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001082383 | SCV002524189 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |