Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001521309 | SCV001730628 | benign | X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001521309 | SCV002798682 | benign | X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948550 | SCV004763905 | likely benign | WAS-related disorder | 2023-01-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |