Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000974770 | SCV001122630 | benign | Polyagglutinable erythrocyte syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003906087 | SCV004719538 | benign | C1GALT1C1-related condition | 2019-08-07 | 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). |