Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171501 | SCV000221700 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Invitae | RCV002054027 | SCV002322071 | benign | Woodhouse-Sakati syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975246 | SCV004787555 | benign | DCAF17-related condition | 2020-11-02 | 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). |