Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002548270 | SCV001106670 | benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2022-08-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002489344 | SCV002802356 | likely benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 | 2022-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432964 | SCV004156798 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | GLI3: BP4, BP7 |
Prevention |
RCV003970813 | SCV004781110 | likely benign | GLI3-related condition | 2021-12-09 | 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). |