ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)

dbSNP: rs114883767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925754 SCV001071304 likely benign Kostmann syndrome 2024-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711417 SCV005262210 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000925754 SCV002085828 likely benign Kostmann syndrome 2020-01-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970532 SCV004781340 likely benign HAX1-related disorder 2023-04-11 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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