Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313635 | SCV000848796 | likely benign | Inborn genetic diseases | 2018-01-31 | 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 | RCV000950973 | SCV001097319 | likely benign | KBG syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619829 | SCV001844950 | benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000950973 | SCV002525196 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001619829 | SCV004143459 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ANKRD11: BS1 |