Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001482255 | SCV001686617 | likely benign | RASopathy | 2022-11-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597280 | SCV001830864 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002468253 | SCV002763580 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468252 | SCV002763581 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003388019 | SCV004099955 | likely benign | not specified | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037224 | SCV005023073 | likely benign | Cardiovascular phenotype | 2022-12-16 | 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. |