Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861182 | SCV001001424 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003259003 | SCV003947586 | uncertain significance | Inborn genetic diseases | 2023-05-30 | criteria provided, single submitter | clinical testing | The c.1816C>T (p.R606W) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 1816, causing the arginine (R) at amino acid position 606 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003480882 | SCV004227256 | uncertain significance | not provided | 2022-10-06 | criteria provided, single submitter | clinical testing | BP4, PM2 |
Prevention |
RCV003965634 | SCV004778314 | likely benign | PKHD1-related disorder | 2021-02-11 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000861182 | SCV001463511 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-20 | no assertion criteria provided | clinical testing |