ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.57C>T (p.His19=)

gnomAD frequency: 0.00001  dbSNP: rs941774283
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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 RCV001402692 SCV001604543 likely benign Kostmann syndrome 2021-06-18 criteria provided, single submitter clinical testing

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