Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001457292 | SCV001661093 | likely benign | Saldino-Mainzer syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495651 | SCV002802811 | likely benign | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2021-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965907 | SCV004778538 | likely benign | IFT140-related condition | 2022-09-04 | 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). |