Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000115747 | SCV000149656 | likely benign | not specified | 2017-11-01 | 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. |
Invitae | RCV001084968 | SCV000166410 | benign | Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000210772 | SCV000267099 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000115747 | SCV000540656 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Outside splice consensus; 2 pubs in HGMD describe 1 proband with no segs |
Integrated Genetics/Laboratory Corporation of America | RCV000589592 | SCV000697517 | benign | not provided | 2016-01-13 | criteria provided, single submitter | clinical testing | Variant summary: Variant of interest is a substitution of a non-conserved nucleotide located at an intronic position not widely known to affect splicing. 5/5 in silico tools via Alamut predict no impact on normal splicing by the variant along with mutation taster predicting a neutral outcome. The variant was found in the European and African subcohorts of the ExAC project at an allele frequency of 0.076% and 0.048% respectively. These allele frequencies exceed the maximal expected allele frequency of a disease causing VHL variant (0.0028%) indicating the variant to be non-disease causing. It was also seen in patients with phaeochromocytoma, suspected VHL disease and with sporadic RCC, however without strong evidence for pathogenicity. Multiple clinical diagnostic laboratories classify variant as Likely Benign/Benign via ClinVar (without evidence to independently evaluate). Considering the high prevalence of the variant in the general population this variant is classified as benign. |
Counsyl | RCV000123108 | SCV000785566 | likely benign | Von Hippel-Lindau syndrome | 2017-09-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000589592 | SCV000805351 | likely benign | not provided | 2017-02-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000589592 | SCV001153780 | uncertain significance | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000123108 | SCV001304545 | uncertain significance | Von Hippel-Lindau syndrome | 2018-08-08 | 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. |
Genomic Diagnostic Laboratory, |
RCV000123108 | SCV000264746 | likely benign | Von Hippel-Lindau syndrome | 2016-02-26 | no assertion criteria provided | clinical testing |