Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001483860 | SCV001688267 | likely benign | Kostmann syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938866 | SCV004747284 | likely benign | HAX1-related disorder | 2019-05-08 | criteria provided, single submitter | 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). |
Breakthrough Genomics, |
RCV004711677 | SCV005262207 | likely benign | not provided | criteria provided, single submitter | not provided |