Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504314 | SCV000597764 | uncertain significance | not specified | 2016-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000891845 | SCV001035684 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524326 | SCV003586469 | likely benign | Inborn genetic diseases | 2021-09-01 | 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. |
Prevention |
RCV003935317 | SCV004753964 | likely benign | TUBGCP6-related condition | 2022-03-28 | 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). |