Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000928456 | SCV001074066 | likely benign | Tuberous sclerosis 1 | 2022-08-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731979 | SCV001983210 | likely benign | not provided | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000928456 | SCV002040384 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454110 | SCV002737995 | likely benign | Hereditary cancer-predisposing syndrome | 2022-05-27 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782603 | SCV005395345 | likely benign | not specified | 2024-09-19 | criteria provided, single submitter | clinical testing |