Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317967 | SCV000849505 | likely benign | Inborn genetic diseases | 2016-06-08 | 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 | RCV000874943 | SCV001017193 | benign | KBG syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683647 | SCV001898886 | benign | not provided | 2019-02-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000874943 | SCV002524175 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001683647 | SCV004143483 | benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BS1, BS2 |