Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877893 | SCV001020702 | benign | Saldino-Mainzer syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930455 | SCV004746360 | benign | IFT140-related condition | 2019-08-02 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |