Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003983148 | SCV004796764 | uncertain significance | PKD1-related condition | 2024-02-12 | criteria provided, single submitter | clinical testing | The PKD1 c.12425G>T variant is predicted to result in the amino acid substitution p.Gly4142Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Alternative variant at the same codon (p.Gly4142Cys) has been reported in an individual with polycystic kidney disease ( Table S1, Yu et al. 2022. PubMed ID: 35778421). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625672 | SCV000746175 | uncertain significance | Polycystic kidney disease, adult type | 2017-10-30 | no assertion criteria provided | clinical testing |