Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788598 | SCV000927765 | likely pathogenic | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing | |
3billion | RCV002051894 | SCV002318593 | likely pathogenic | Polycystic kidney disease 4 | 2022-03-22 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PKHD1 related disorder (ClinVar ID: VCV000636692, PMID:26862157). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.677>=0.6, 3CNET: 0.973>=0.75, SPLICEAI: 0.8>=0.8). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Center for Genomic Medicine, |
RCV002051894 | SCV004807362 | likely pathogenic | Polycystic kidney disease 4 | 2024-03-26 | criteria provided, single submitter | clinical testing |