ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.822T>C (p.Arg274=)

gnomAD frequency: 0.00001  dbSNP: rs756399040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485240 SCV001689671 likely benign Kostmann syndrome 2024-09-08 criteria provided, single submitter clinical testing

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