Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666039 | SCV000790272 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Center of Genomic medicine, |
RCV000666039 | SCV000897969 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-05-15 | criteria provided, single submitter | clinical testing | This recessive variant was identified in a newborn baby diagnosed with renal polykystosis. The patient also harbours a second variant (see below) in the same gene in compound heterozygosity. |