Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000925754 | SCV001071304 | likely benign | Kostmann syndrome | 2024-10-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004711417 | SCV005262210 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000925754 | SCV002085828 | likely benign | Kostmann syndrome | 2020-01-31 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003970532 | SCV004781340 | likely benign | HAX1-related disorder | 2023-04-11 | 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). |