ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.74C>T (p.Pro25Leu) (rs35460768)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079211 SCV000111081 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Invitae RCV001082579 SCV000153955 benign Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000079211 SCV000169801 benign not specified 2013-12-11 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.
Ambry Genetics RCV000126300 SCV000212721 benign Hereditary cancer-predisposing syndrome 2015-07-09 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000119213 SCV000257721 benign Von Hippel-Lindau syndrome 2015-07-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224298 SCV000281295 likely benign not provided 2015-10-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000079211 SCV000305277 benign not specified 2018-02-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119213 SCV000439634 benign Von Hippel-Lindau syndrome 2018-03-06 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.
Genetic Services Laboratory,University of Chicago RCV000079211 SCV000597845 benign not specified 2017-04-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079211 SCV000605561 benign not specified 2019-06-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224298 SCV000780755 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
ITMI RCV000079211 SCV000086484 not provided not specified 2013-09-19 no assertion provided reference population

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