Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712641 | SCV000843159 | uncertain significance | not provided | 2020-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712641 | SCV001988895 | uncertain significance | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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: 25333066, 30333007) |
Prevention |
RCV003403644 | SCV004102922 | likely pathogenic | PKD1-related condition | 2023-09-06 | criteria provided, single submitter | clinical testing | The PKD1 c.6827T>C variant is predicted to result in the amino acid substitution p.Leu2276Pro. This variant was reported in unrelated individuals with polycystic kidney disease (Trujillano et al. 2014. PubMed ID: 25333066; He et al. 2018. PubMed ID: 30333007). Of note, this variant was reported to be segregated with disease in He et al. study. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic. |