ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.317-4G>T

gnomAD frequency: 0.00002  dbSNP: rs368305272
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822443 SCV002066880 uncertain significance not specified 2021-02-22 criteria provided, single submitter clinical testing This change does not appear to have been previously described in patients with HAX1-related disorders and has been described in the gnomAD with a low population frequency of 0.0032% (dbSNP rs368305272). In silico splice prediction programs provide inconclusive results for this sequence change. It is possible that this sequence change represents a benign sequence change in the HAX1 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Labcorp Genetics (formerly Invitae), Labcorp RCV002074357 SCV002411043 likely benign Kostmann syndrome 2024-12-24 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.