ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.411G>A (p.Gln137=)

gnomAD frequency: 0.00002  dbSNP: rs766622654
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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 RCV000929616 SCV001075250 likely benign Kostmann syndrome 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973178 SCV005596159 likely benign Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000929616 SCV002085827 likely benign Kostmann syndrome 2021-10-12 no assertion criteria provided clinical testing

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