Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002751359 | SCV003027729 | likely benign | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003916531 | SCV004735564 | likely benign | RBBP8-related condition | 2022-04-19 | 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). |