ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)

dbSNP: rs1572018284
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090409 SCV001245950 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090409 SCV001447670 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001090409 SCV001449851 pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing
3billion RCV000004914 SCV002058599 pathogenic Kostmann syndrome 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000004651, PMID:17187068). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genomics Facility, Ludwig-Maximilians-Universität München RCV000004914 SCV002073899 pathogenic Kostmann syndrome 2021-12-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV000004914 SCV002757842 pathogenic Kostmann syndrome 2022-06-03 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001090409 SCV005197085 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing
OMIM RCV000004914 SCV000025090 pathogenic Kostmann syndrome 2008-05-15 no assertion criteria provided literature only

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