ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.463+8C>T (rs5030834)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 RCV000589592 SCV000166410 benign not provided 2019-03-05 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,Partners HealthCare Personalized 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
PreventionGenetics,PreventionGenetics RCV000589592 SCV000805351 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000123108 SCV000264746 likely benign Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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