Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001461219 | SCV001665107 | likely benign | Immunodeficiency 104 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003416350 | SCV004125225 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | PTPRC: BP4, BP7 |
Prevention |
RCV003938823 | SCV004760708 | likely benign | PTPRC-related disorder | 2024-01-15 | 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). |