Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865588 | SCV001006579 | likely benign | Neuronal ceroid lipofuscinosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575058 | SCV001801971 | likely benign | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319973 | SCV002605863 | likely benign | Inborn genetic diseases | 2018-09-13 | 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. |