Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664843 | SCV000788861 | uncertain significance | Autosomal recessive polycystic kidney disease | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578917 | SCV001806276 | uncertain significance | Polycystic kidney disease 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003231575 | SCV003930215 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in an individual with childhood-onset nephromegaly and systemic hypertension in published literature (Furu et al., 2003); Reported in heterozygous parents of child with autosomal recessive polycystic kidney disease in unrelated families in published literature (Bitarafan et al., 2018); however, genetic testing was never performed on the affected children; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30595564, 12874454) |