Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV003337273 | SCV004045692 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Institute of Human Genetics, |
RCV003337273 | SCV004175938 | pathogenic | Familial adenomatous polyposis 1 | 2023-12-14 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_MOD,PM2_SUP |
Database of Curated Mutations |
RCV000433006 | SCV000505004 | likely pathogenic | Neoplasm of the large intestine | 2015-07-14 | no assertion criteria provided | literature only |