Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177891 | SCV000229845 | pathogenic | not provided | 2015-03-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780604 | SCV000918014 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-11-21 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.5879_5880delCA (p.Thr1960LysfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Leu1966fsX4, p.Arg3107X, p.Asp3230fsX34). The variant allele was found at a frequency of 7.2e-06 in 276878 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5879_5880delCA in individuals affected with Polycystic Kidney and Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Fulgent Genetics, |
RCV002503686 | SCV002805324 | pathogenic | Polycystic kidney disease 4 | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002503686 | SCV004204796 | likely pathogenic | Polycystic kidney disease 4 | 2022-04-27 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000780604 | SCV001132460 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2014-12-30 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000780604 | SCV001459188 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |