Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203997 | SCV000260233 | benign | Gorlin syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711615 | SCV000729463 | likely benign | not provided | 2020-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018939 | SCV001180237 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-26 | 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. |
Ce |
RCV001711615 | SCV003917673 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | PTCH1: BP4, BS1 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001711615 | SCV004219206 | benign | not provided | 2022-03-11 | criteria provided, single submitter | clinical testing |