Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869135 | SCV001010536 | likely benign | Baller-Gerold syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948153 | SCV004767213 | likely benign | RECQL4-related condition | 2023-06-06 | 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). |