Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000196729 | SCV000253195 | likely benign | Gorlin syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002478700 | SCV002773936 | benign | not specified | 2021-07-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503778 | SCV002796041 | likely benign | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553080 | SCV004737742 | likely benign | PTCH1-related disorder | 2019-09-26 | 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). |