Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707690 | SCV000836797 | likely benign | Adrenoleukodystrophy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317927 | SCV000851963 | likely benign | Inborn genetic diseases | 2016-10-11 | 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. |
ARUP Laboratories, |
RCV001001198 | SCV001158358 | likely benign | not specified | 2019-04-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000707690 | SCV002045636 | likely benign | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing |