Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269742 | SCV001449973 | pathogenic | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | |
3billion | RCV000627066 | SCV002058747 | pathogenic | Brachyolmia-amelogenesis imperfecta syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: 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 to be associated with LTBP3 related disorder (ClinVar ID: VCV000523637, PMID:29625025). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000047, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000627066 | SCV000747835 | pathogenic | Brachyolmia-amelogenesis imperfecta syndrome | 2018-05-11 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291427 | SCV001479929 | confers sensitivity | Heritable Thoracic Aortic Disease | no assertion criteria provided | research | ||
Institute of Human Genetics, |
RCV000627066 | SCV004171027 | pathogenic | Brachyolmia-amelogenesis imperfecta syndrome | 2020-11-17 | no assertion criteria provided | research |