Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000992560 | SCV001144959 | uncertain significance | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV002471004 | SCV002767843 | uncertain significance | Polycystic kidney disease, adult type | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as VUS-3B. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 1, (MIM#173900). Polycystic kidney disease 1 is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0216 - In-frame deletion in a non-repetitive region that has low conservation. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (v2 and v3). (SP) 0600 - Variant is located in the annotated C-type lectin domain (PDB). (I) 0705 - No comparable in-frame deletion variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been previously reported as a VUS (ClinVar) using alternative nomenclature. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |