Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002542062 | SCV001046426 | likely benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2018-09-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502667 | SCV002813620 | likely benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910764 | SCV004720789 | likely benign | GLI3-related condition | 2020-11-24 | 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). |