Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000082533 | SCV000114575 | benign | not specified | 2013-04-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000169044 | SCV000220202 | likely benign | Autosomal recessive polycystic kidney disease | 2014-03-27 | criteria provided, single submitter | literature only | |
Center for Pediatric Genomic Medicine, |
RCV000224258 | SCV000281335 | likely benign | not provided | 2015-10-29 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000169044 | SCV000291327 | benign | Autosomal recessive polycystic kidney disease | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082533 | SCV000315782 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000082533 | SCV000520871 | likely benign | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Integrated Genetics/Laboratory Corporation of America | RCV000224258 | SCV000699854 | likely benign | not provided | 2016-04-26 | criteria provided, single submitter | clinical testing | Variant summary: Variant affects a non-conserved nucleotide a results in a replacement of a medium size and hydrophobic Proline (P) with a large size and basic Arginine (R). in silico tools predict the variant to be normal; however these predictions have yet to be confirmed by functional studies. The variant was observed predominantly in the African subcohorts of the ExAC project at an allele frequency of 2.3% (including 3 homozygotes) which exceeds ~3 times the maximal expected allele frequency of a disease causing PKHD1 allele (0.7%) indicating the variant to be in the neutral spectrum. The variant was reported in two autosomal-recessive polycystic kidney disease patients in compound heterozygosity with a potentially pathogenic PKHD1 variant. Clinical laboratories classify variant as Benign/Likely benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as Likely Benign. |
Mendelics | RCV000169044 | SCV001137147 | benign | Autosomal recessive polycystic kidney disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000169044 | SCV001325524 | likely benign | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |