Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001114567 | SCV001272467 | benign | Pseudohypoaldosteronism type 2C | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Labcorp Genetics |
RCV002069847 | SCV002449762 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2022-11-08 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003405322 | SCV004109523 | uncertain significance | WNK1-related disorder | 2022-10-04 | criteria provided, single submitter | clinical testing | The WNK1 c.5513C>T variant is predicted to result in the amino acid substitution p.Ser1838Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-1003731-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |