Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312333 | SCV000846407 | likely benign | Inborn genetic diseases | 2016-05-02 | 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 | RCV000956967 | SCV001103759 | benign | Neuronal ceroid lipofuscinosis 13 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288579 | SCV001475805 | benign | not specified | 2019-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613439 | SCV001838716 | benign | not provided | 2018-12-11 | criteria provided, single submitter | clinical testing |