Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996358 | SCV001151040 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000996358 | SCV001665579 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996358 | SCV001768422 | likely benign | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29228253) |
Ambry Genetics | RCV002391059 | SCV002708182 | benign | Cardiovascular phenotype | 2021-12-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV003898014 | SCV004708849 | likely benign | ZNF469-related condition | 2022-04-04 | 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). |