Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946336 | SCV001092461 | likely benign | Neurofibromatosis, type 1 | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570795 | SCV001795146 | likely benign | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000946336 | SCV002560715 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363467 | SCV002623827 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-06-10 | 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. |