Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525655 | SCV000655923 | benign | Early-onset Lafora body disease | 2023-07-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952876 | SCV004769376 | likely benign | PRDM8-related condition | 2019-11-26 | 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). |