Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038455 | SCV000062128 | likely benign | not specified | 2010-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531092 | SCV000635082 | likely benign | Costello syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257382 | SCV002537972 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-24 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV003162337 | SCV003863999 | likely benign | Cardiovascular phenotype | 2023-02-05 | 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 |
RCV003964858 | SCV004783282 | likely benign | HRAS-related condition | 2020-11-10 | 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). |