Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732565 | SCV000860534 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732565 | SCV001037141 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343601 | SCV002651581 | likely benign | Cardiovascular phenotype | 2019-10-05 | 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 |
RCV003928241 | SCV004745394 | likely benign | ABCG8-related condition | 2022-12-07 | 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). |