Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517028 | SCV000612334 | benign | not specified | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000945521 | SCV001091544 | benign | KBG syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001644597 | SCV001856980 | benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | |
Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000945521 | SCV002097351 | benign | KBG syndrome | 2021-11-01 | criteria provided, single submitter | research | |
Genome- |
RCV000945521 | SCV002525202 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341203 | SCV002644189 | likely benign | Inborn genetic diseases | 2018-01-19 | 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 |
RCV001644597 | SCV004143468 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | ANKRD11: BS1, BS2 |