Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176723 | SCV000228430 | benign | not specified | 2014-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721112 | SCV000572246 | likely benign | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001721112 | SCV002282456 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This variant, c.3271_3273del, results in the deletion of 1 amino acid(s) of the WDR62 protein (p.His1091del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776389758, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. ClinVar contains an entry for this variant (Variation ID: 196011). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002516712 | SCV003526125 | uncertain significance | Inborn genetic diseases | 2021-07-02 | criteria provided, single submitter | clinical testing | The c.3271_3273delCAC (p.H1091del) alteration is located in exon 27 (coding exon 27) of the WDR62 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.3271 and c.3273, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |