ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.231T>C (p.Asp77=)

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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 RCV003009325 SCV003299117 likely benign Kostmann syndrome 2024-05-02 criteria provided, single submitter clinical testing

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