ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.463dup (p.Gln155fs)

dbSNP: rs1572018886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507455 SCV001713034 pathogenic not provided 2019-07-28 criteria provided, single submitter clinical testing PVS1, PS3, PM2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000985095 SCV004808168 likely pathogenic Kostmann syndrome 2024-03-29 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985095 SCV001133061 likely pathogenic Kostmann syndrome 2019-09-26 no assertion criteria provided clinical testing

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