Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513484 | SCV000609258 | likely benign | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001413484 | SCV001615600 | likely benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942669 | SCV004757351 | likely benign | GLI3-related condition | 2021-08-02 | 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). |