Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713755 | SCV000844384 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317944 | SCV000850972 | likely benign | Inborn genetic diseases | 2018-07-13 | 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. |
Invitae | RCV000713755 | SCV001003434 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713755 | SCV004036919 | uncertain significance | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003907980 | SCV004719731 | likely benign | SZT2-related condition | 2022-02-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |