Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710565 | SCV000840807 | likely benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317934 | SCV000850318 | likely benign | Inborn genetic diseases | 2016-11-09 | 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 | RCV001078903 | SCV001097551 | likely benign | KBG syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710565 | SCV001935754 | benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001078903 | SCV002525176 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710565 | SCV004143442 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | ANKRD11: BS1, BS2 |