Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082549 | SCV000114591 | benign | not specified | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082549 | SCV000315800 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000282648 | SCV000464088 | benign | Autosomal recessive polycystic kidney disease | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000082549 | SCV000966327 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Ala1262Val in exon 32 of PKHD1: This variant is not expected to have clinical significance because it has been identified in 66.59% (7676/11528) of Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs9296669). |
Invitae | RCV000282648 | SCV001000021 | benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001530435 | SCV001745263 | benign | Polycystic kidney disease 4 | 2021-06-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705799 | SCV001893115 | benign | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001530435 | SCV002029996 | benign | Polycystic kidney disease 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001291850 | SCV000592894 | benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | Thec.3785C>T, p.Ala1262Val variant was identified in 46.98% of 56668 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015). | |
Natera, |
RCV000282648 | SCV002080984 | benign | Autosomal recessive polycystic kidney disease | 2017-05-11 | no assertion criteria provided | clinical testing |