Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000518884 | SCV000616489 | likely benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.581+4A>G variant in the RAF1 gene is 0.0375% (34/66642) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581) |
Eurofins Ntd Llc |
RCV000591245 | SCV000706477 | likely benign | not specified | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000518884 | SCV001011103 | benign | RASopathy | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358401 | SCV002647417 | likely benign | Cardiovascular phenotype | 2021-10-28 | 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. |
Fulgent Genetics, |
RCV002490896 | SCV002795344 | benign | LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN | 2021-07-05 | criteria provided, single submitter | clinical testing |