ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.36C>G (p.Gly12=)

gnomAD frequency: 0.00001  dbSNP: rs201477841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919677 SCV001065030 likely benign Kostmann syndrome 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000919677 SCV001455151 uncertain significance Kostmann syndrome 2020-01-24 no assertion criteria provided clinical testing

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