ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.168C>T (p.His56=)

dbSNP: rs756371972
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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 RCV002210824 SCV002491715 likely benign Kostmann syndrome 2023-02-21 criteria provided, single submitter clinical testing

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