Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088250 | SCV000644478 | benign | Tuberous sclerosis 2 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000831463 | SCV000973213 | likely benign | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021249 | SCV001182840 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Genome- |
RCV001088250 | SCV002039380 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497149 | SCV002808578 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-05-11 | criteria provided, single submitter | clinical testing |