Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314578 | SCV000848348 | likely benign | Inborn genetic diseases | 2016-11-21 | 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 | RCV001085582 | SCV001053098 | likely benign | Adrenoleukodystrophy | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000908342 | SCV001142893 | benign | not provided | 2018-12-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001085582 | SCV002045868 | benign | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing |