Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167112 | SCV000217942 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-04 | 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. |
Gene |
RCV001721086 | SCV000243638 | likely benign | not provided | 2019-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000233190 | SCV000285467 | benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000233190 | SCV002041242 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000167112 | SCV002534083 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-28 | criteria provided, single submitter | curation |