Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534425 | SCV000644508 | benign | Tuberous sclerosis 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572402 | SCV000675621 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-13 | 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- |
RCV000534425 | SCV002041217 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821553 | SCV002068034 | likely benign | not specified | 2021-11-09 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000534425 | SCV004016166 | likely benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing |