ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.462C>A (p.Pro154=)

dbSNP: rs541692174
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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 RCV002182287 SCV002335050 likely benign Kostmann syndrome 2020-12-09 criteria provided, single submitter clinical testing

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