Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197576 | SCV000253196 | likely benign | Gorlin syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000252954 | SCV000303363 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000564578 | SCV000674460 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-19 | 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 |
RCV003430756 | SCV004160208 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | PTCH1: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003430756 | SCV004219265 | benign | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing |