Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000664149 | SCV000787601 | uncertain significance | Monogenic diabetes | 2017-02-17 | criteria provided, single submitter | research | ACMG Criteria:BP4 (9 predictors) |
Invitae | RCV000957608 | SCV001104421 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144466 | SCV003829267 | uncertain significance | Congenital generalized lipodystrophy type 4 | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945692 | SCV004763365 | likely benign | CAVIN1-related condition | 2020-10-27 | 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). |