Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000387508 | SCV000459464 | likely benign | Polycystic liver disease 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950259 | SCV004758081 | likely benign | SEC63-related condition | 2020-03-27 | 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). |