Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996371 | SCV001151056 | likely benign | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996371 | SCV001792442 | likely benign | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000996371 | SCV002340989 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445150 | SCV002682357 | likely benign | Cardiovascular phenotype | 2019-08-14 | 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 |
RCV003936263 | SCV004764149 | likely benign | ZNF469-related condition | 2023-06-06 | 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). |