ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.53+13C>T

dbSNP: rs759011018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001715593 SCV001942784 benign not provided 2015-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073338 SCV002391610 likely benign Kostmann syndrome 2023-11-27 criteria provided, single submitter clinical testing

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