ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.18C>T (p.Leu6=)

dbSNP: rs375735851
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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 RCV001483860 SCV001688267 likely benign Kostmann syndrome 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938866 SCV004747284 likely benign HAX1-related disorder 2019-05-08 criteria provided, single submitter 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).
Breakthrough Genomics, Breakthrough Genomics RCV004711677 SCV005262207 likely benign not provided criteria provided, single submitter not provided

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