Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766956 | SCV000243389 | uncertain significance | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics Inc | RCV000189741 | SCV000615826 | uncertain significance | not specified | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314770 | SCV000849206 | likely benign | Inborn genetic diseases | 2018-11-12 | 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 | RCV000766956 | SCV001006629 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000766956 | SCV003820950 | uncertain significance | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274545 | SCV001458796 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-04-14 | no assertion criteria provided | clinical testing |