Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090409 | SCV001245950 | pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001090409 | SCV001447670 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Clinical Genetics and Genomics, |
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, |
RCV000004914 | SCV002073899 | pathogenic | Kostmann syndrome | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000004914 | SCV002757842 | pathogenic | Kostmann syndrome | 2022-06-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics Laboratory, |
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 |