Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623177 | SCV000740897 | pathogenic | Inborn genetic diseases | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650830 | SCV001871021 | pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus demonstrated to result in protein truncation (Kayserili et al., 2009); Published functional studies demonstrate a damaging effect: protein mislocalization in COS7 cells, altered epidermal differentiation and junctional beta-catenin expression in cells from homozygous individuals (Kayserili et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 24668755, 19692347, 27975139, 34426522) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001650830 | SCV002051526 | pathogenic | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | PVS1, PS4, PM2 |
OMIM | RCV000005323 | SCV000025501 | pathogenic | Frontonasal dysplasia with alopecia and genital anomaly | 2009-11-15 | no assertion criteria provided | literature only |