Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000632784 | SCV000753970 | likely benign | Noonan syndrome | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001264567 | SCV001442789 | benign | not specified | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001756048 | SCV002006849 | likely benign | not provided | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001264567 | SCV002712224 | likely benign | not specified | 2022-03-21 | 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, |
RCV001756048 | SCV005209870 | likely benign | not provided | criteria provided, single submitter | not provided |