Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385976 | SCV001586030 | pathogenic | Autosomal recessive polycystic kidney disease | 2015-10-01 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exon 51 of the PKHD1 gene. This variant has not been published in the literature and is not present in population databases. We have confirmed, through parental testing, that this deletion occurs in trans from the PKHD1 c.930delC (p.Thr311Leufs*8) pathogenic variant in this individual affected with polycystic kidney disease. For these reasons, this variant has been classified as Pathogenic. |