Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001290607 | SCV001478701 | likely benign | not specified | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003120536 | SCV003785385 | likely benign | Noonan syndrome 9 | 2024-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035579 | SCV005025081 | likely benign | Cardiovascular phenotype | 2024-02-17 | 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. |