ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.54-8A>G

dbSNP: rs2149139463
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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 RCV002081529 SCV002422275 likely benign Kostmann syndrome 2021-11-05 criteria provided, single submitter clinical testing

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