Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555115 | SCV000641868 | benign | Mowat-Wilson syndrome | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316556 | SCV000850631 | uncertain significance | Inborn genetic diseases | 2017-04-24 | criteria provided, single submitter | clinical testing | The p.M665V variant (also known as c.1993A>G), located in coding exon 7 of the ZEB2 gene, results from an A to G substitution at nucleotide position 1993. The methionine at codon 665 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Genome- |
RCV000555115 | SCV002045595 | likely benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |