Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807813 | SCV000947887 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363078 | SCV002656922 | uncertain significance | Inborn genetic diseases | 2019-11-04 | criteria provided, single submitter | clinical testing | The p.V2157E variant (also known as c.6470T>A), located in coding exon 24 of the WNK1 gene, results from a T to A substitution at nucleotide position 6470. The valine at codon 2157 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is well 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. |
Ce |
RCV003392615 | SCV004129689 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | WNK1: PM2, BP4 |