Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001512005 | SCV001719340 | benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940897 | SCV004751834 | likely benign | CACNA1F-related disorder | 2022-10-31 | 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). |