Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939632 | SCV001085481 | likely benign | Juvenile polyposis syndrome | 2019-05-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258060 | SCV002538344 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-04 | criteria provided, single submitter | curation | |
Prevention |
RCV003933205 | SCV004759941 | likely benign | SMAD4-related condition | 2020-07-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |