Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501774 | SCV000595531 | uncertain significance | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558489 | SCV001780445 | likely benign | not provided | 2020-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001558489 | SCV002394344 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001558489 | SCV004026465 | uncertain significance | not provided | 2022-03-09 | criteria provided, single submitter | clinical testing | PM1, PM2_SUP, PM3, BP4 |
Ambry Genetics | RCV004023381 | SCV004894222 | likely benign | Inborn genetic diseases | 2021-10-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |