Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435344 | SCV000512818 | benign | not specified | 2015-09-21 | 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 | RCV000457811 | SCV000555922 | likely benign | Neuronal ceroid lipofuscinosis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000435344 | SCV000613143 | benign | not specified | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318384 | SCV000851034 | likely benign | Inborn genetic diseases | 2016-06-21 | 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. |
Ce |
RCV003430981 | SCV004151015 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | DNAJC5: BP4, BP7 |