ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.594G>A (p.Pro198=)

gnomAD frequency: 0.00003  dbSNP: rs752302439
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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 RCV001455210 SCV001658968 likely benign Kostmann syndrome 2024-01-09 criteria provided, single submitter clinical testing

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