Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713753 | SCV000844382 | likely benign | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317943 | SCV000849946 | benign | Inborn genetic diseases | 2017-06-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000713753 | SCV001002892 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713753 | SCV001788824 | likely benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713753 | SCV004032946 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SZT2: BP4, BP7, BS2 |
Genome- |
RCV003457741 | SCV004179092 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000713753 | SCV001931398 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000713753 | SCV001971796 | likely benign | not provided | no assertion criteria provided | clinical testing |