Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003965434 | SCV004786972 | pathogenic | PKD1-related condition | 2023-11-15 | criteria provided, single submitter | clinical testing | The PKD1 c.6508dupG variant is predicted to result in a frameshift and premature protein termination (p.Glu2170Glyfs*5). This variant has been reported in an individual with cystic renal disease (Groopman et al. 2019. PubMed ID: 30586318, Table S7). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Gharavi Laboratory, |
RCV000681731 | SCV000809186 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |