Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000889225 | SCV001032892 | benign | Axenfeld-Rieger syndrome type 3 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940630 | SCV004750162 | benign | FOXC1-related condition | 2019-06-21 | 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). |