ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.505-16A>G

gnomAD frequency: 0.00015  dbSNP: rs551835048
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004714364 SCV005279944 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV002189947 SCV002346884 benign Kostmann syndrome 2026-01-26 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.