Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989368 | SCV001139665 | likely pathogenic | Galloway-Mowat syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002549726 | SCV003004670 | pathogenic | not provided | 2024-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly238Trpfs*17) in the WDR73 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR73 are known to be pathogenic (PMID: 25466283, 25873735, 26123727). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WDR73-related conditions. ClinVar contains an entry for this variant (Variation ID: 803115). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000989368 | SCV003807044 | likely pathogenic | Galloway-Mowat syndrome 1 | 2022-09-15 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderated |