ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.557-19C>T

gnomAD frequency: 0.00001  dbSNP: rs1050683276
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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 RCV002166124 SCV002422825 likely benign Kostmann syndrome 2023-12-04 criteria provided, single submitter clinical testing

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