Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037694 | SCV000061356 | likely benign | not specified | 2015-01-02 | criteria provided, single submitter | clinical testing | p.Gln192Gln in exon 5 of RAF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. It has been identified in 16/67622 of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs1 48759910). |
Ambry Genetics | RCV000254016 | SCV000319644 | likely benign | Cardiovascular phenotype | 2015-06-10 | 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. |
Labcorp Genetics |
RCV001078756 | SCV000562254 | likely benign | RASopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000468974 | SCV001153798 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | RAF1: BP4, BP7 |
Gene |
RCV000468974 | SCV001892810 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813265 | SCV002060612 | likely benign | Noonan syndrome and Noonan-related syndrome | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037694 | SCV002598742 | benign | not specified | 2022-09-24 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037694 | SCV001920638 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000468974 | SCV001966326 | likely benign | not provided | no assertion criteria provided | clinical testing |