Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318092 | SCV000849773 | benign | Inborn genetic diseases | 2017-05-08 | 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 | RCV001514090 | SCV001721843 | benign | KBG syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001637120 | SCV001850621 | benign | not provided | 2020-03-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24690944) |
Genome- |
RCV001514090 | SCV002525157 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001514090 | SCV002808383 | benign | KBG syndrome | 2021-07-07 | criteria provided, single submitter | clinical testing |