ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.505-9C>T

gnomAD frequency: 0.00001  dbSNP: rs779604569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940709 SCV001086574 likely benign Kostmann syndrome 2025-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000940709 SCV002085830 likely benign Kostmann syndrome 2021-01-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003895718 SCV004711306 likely benign HAX1-related disorder 2022-11-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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