ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.129A>T (p.Ser43=)

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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 RCV003867658 SCV004672411 likely benign Kostmann syndrome 2023-01-17 criteria provided, single submitter clinical testing

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