Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000157907 | SCV000207838 | benign | not specified | 2014-10-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000157907 | SCV000311011 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000470354 | SCV000560887 | likely benign | Costello syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813409 | SCV002060509 | likely benign | Noonan syndrome and Noonan-related syndrome | 2020-09-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258815 | SCV002537970 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-08 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002408711 | SCV002714876 | likely benign | Cardiovascular phenotype | 2022-03-04 | 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. |
Ce |
RCV003390854 | SCV004134987 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | HRAS: BP4, BP7 |