Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187295 | SCV000240877 | benign | not specified | 2014-10-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000632738 | SCV000753924 | likely benign | Neuronal ceroid lipofuscinosis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362980 | SCV002657260 | likely benign | Inborn genetic diseases | 2017-10-09 | 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. |
Fulgent Genetics, |
RCV002500571 | SCV002801635 | likely benign | Neuronal ceroid lipofuscinosis 10 | 2021-10-14 | criteria provided, single submitter | clinical testing |