Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877065 | SCV001019736 | likely benign | KBG syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619857 | SCV001844833 | benign | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000877065 | SCV002525153 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363311 | SCV002664416 | likely benign | Inborn genetic diseases | 2017-08-02 | 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. |
Ce |
RCV001619857 | SCV004143423 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BP7, BS1 |