Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461782 | SCV000548935 | likely benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313170 | SCV000739409 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-05-03 | criteria provided, single submitter | clinical testing | The p.R1438H variant (also known as c.4313G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4313. The arginine at codon 1438 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV000766059 | SCV000897515 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565647 | SCV001789032 | uncertain significance | not provided | 2023-01-10 | criteria provided, single submitter | clinical testing | Has not been previously published in association with connective tissue disorders to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26353884) |
Mayo Clinic Laboratories, |
RCV001565647 | SCV004225187 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | BP4 |