Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000693849 | SCV000822270 | benign | Adams-Oliver syndrome 5 | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546581 | SCV001766119 | uncertain significance | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 560621; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Genome- |
RCV000693849 | SCV002553556 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270958 | SCV002553557 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442404 | SCV002732233 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.P820S variant (also known as c.2458C>T), located in coding exon 15 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2458. The proline at codon 820 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Clinical Molecular Genetics Laboratory, |
RCV000678730 | SCV000804902 | uncertain significance | Chronic adenoiditis | 2016-10-05 | no assertion criteria provided | clinical testing |