Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001648232 | SCV001860263 | benign | not provided | 2019-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002072991 | SCV002420472 | benign | Adams-Oliver syndrome 5 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002072991 | SCV002555182 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271280 | SCV002555183 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Dept. |
RCV002284222 | SCV002573670 | pathogenic | Myeloproliferative neoplasm, unclassifiable | 2022-08-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542054 | SCV004757284 | likely benign | NOTCH1-related disorder | 2020-12-22 | 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). |