Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037692 | SCV000061354 | likely benign | not specified | 2010-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719745 | SCV000727985 | likely benign | not provided | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001482252 | SCV001686613 | likely benign | RASopathy | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496599 | SCV002805911 | likely benign | LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004018843 | SCV005019475 | likely benign | Cardiovascular phenotype | 2023-09-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV004534800 | SCV004716483 | likely benign | RAF1-related disorder | 2023-03-08 | no assertion criteria provided | 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). |