Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085758 | SCV000560147 | benign | Neuronal ceroid lipofuscinosis | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000675960 | SCV000612849 | benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313223 | SCV000847721 | likely benign | Inborn genetic diseases | 2016-08-29 | 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. |
Gene |
RCV000675960 | SCV001896226 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675960 | SCV000801689 | benign | not provided | 2017-05-15 | no assertion criteria provided | clinical testing |