Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872829 | SCV001014709 | benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938320 | SCV004751061 | likely benign | GLI3-related condition | 2024-02-28 | 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). |