Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690652 | SCV000818350 | likely benign | Mowat-Wilson syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714221 | SCV000844915 | uncertain significance | not provided | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000690652 | SCV002045626 | uncertain significance | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458228 | SCV002737140 | uncertain significance | Inborn genetic diseases | 2018-01-24 | criteria provided, single submitter | clinical testing | The p.H797R variant (also known as c.2390A>G), located in coding exon 7 of the ZEB2 gene, results from an A to G substitution at nucleotide position 2390. The histidine at codon 797 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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. |