Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000876369 | SCV001018934 | likely benign | Noonan syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090747 | SCV001246451 | likely benign | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193589 | SCV001362519 | benign | not specified | 2019-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001193589 | SCV002641126 | likely benign | not specified | 2022-02-11 | 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. |
Breakthrough Genomics, |
RCV001090747 | SCV005209866 | likely benign | not provided | criteria provided, single submitter | not provided |