Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166680 | SCV000217488 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-27 | 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. |
Invitae | RCV000477064 | SCV000544377 | benign | Tuberous sclerosis 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000477064 | SCV002039645 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000166680 | SCV002531061 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-29 | criteria provided, single submitter | curation | |
ITMI | RCV000122213 | SCV000086434 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |