Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647838 | SCV000769641 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422364 | SCV002676876 | uncertain significance | Inborn genetic diseases | 2021-12-29 | criteria provided, single submitter | clinical testing | The p.R2632W variant (also known as c.7894C>T), located in coding exon 28 of the WNK1 gene, results from a C to T substitution at nucleotide position 7894. The arginine at codon 2632 is replaced by tryptophan, an amino acid with dissimilar 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. |
Fulgent Genetics, |
RCV000647838 | SCV002788272 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2022-05-19 | criteria provided, single submitter | clinical testing |