Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861853 | SCV001002263 | benign | X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816932 | SCV002067714 | likely benign | not specified | 2018-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975377 | SCV004791822 | benign | WAS-related condition | 2019-08-20 | 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). |