Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194392 | SCV000249113 | uncertain significance | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000862466 | SCV001002977 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345696 | SCV002648880 | likely benign | Inborn genetic diseases | 2018-02-06 | 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 |
RCV000862466 | SCV004123683 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | SZT2: BP4, BP7 |
Prevention |
RCV003967505 | SCV004777646 | likely benign | SZT2-related condition | 2019-08-14 | 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). |