ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.471A>T (p.Ala157=)

dbSNP: rs1572018909
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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 RCV001439739 SCV001642633 likely benign Kostmann syndrome 2020-04-27 criteria provided, single submitter clinical testing

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