Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000369962 | SCV000330000 | pathogenic | not provided | 2019-04-03 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that L45P leads to abnormal localization of protein in the cell and improper folding of the von Willebrand factor domain (Deuquet et al., 2009); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25458638, 14508707, 19191226, 29801470, 29620724, 31130284) |
Pathology and Clinical Laboratory Medicine, |
RCV001261563 | SCV001438829 | pathogenic | Hyaline fibromatosis syndrome | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001261563 | SCV001523658 | pathogenic | Hyaline fibromatosis syndrome | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001261563 | SCV003817407 | pathogenic | Hyaline fibromatosis syndrome | 2022-05-23 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001261563 | SCV004805191 | likely pathogenic | Hyaline fibromatosis syndrome | 2024-03-17 | criteria provided, single submitter | research | |
Biochemical Molecular Genetic Laboratory, |
RCV001261563 | SCV001469151 | likely pathogenic | Hyaline fibromatosis syndrome | 2020-11-12 | no assertion criteria provided | clinical testing | |
Clinical Laboratory Sciences Program |
RCV001261563 | SCV003927963 | pathogenic | Hyaline fibromatosis syndrome | 2023-04-01 | no assertion criteria provided | clinical testing |