Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082553 | SCV000114595 | benign | not specified | 2013-04-15 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224846 | SCV000281026 | likely benign | not provided | 2015-10-29 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000229420 | SCV000291333 | benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082553 | SCV000315805 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000224846 | SCV000699864 | benign | not provided | 2016-04-26 | criteria provided, single submitter | clinical testing | Variant summary: The c.4343A>G in PKHD1 gene is a missense change that alters a non-conserved nucleotide and 3/4 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.2%, predominantly in individuals of African descent (2.1%), including 2 homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in PKHD1 gene (0.7%). The variant of interest has not, to our knowledge, been reported in affected individuals in published reports. Lastly, a reputable database/diagnostic center classified the variant of interest as Benign. Taking together, the variant was classified as Benign. |
Counsyl | RCV000229420 | SCV000800295 | likely benign | Autosomal recessive polycystic kidney disease | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000229420 | SCV001327550 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000224846 | SCV001739188 | benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27225849) |
Natera, |
RCV000229420 | SCV002078107 | benign | Autosomal recessive polycystic kidney disease | 2017-05-17 | no assertion criteria provided | clinical testing | |
Genetic Services Laboratory, |
RCV000082553 | SCV003839871 | benign | not specified | 2022-09-13 | no assertion criteria provided | clinical testing |