ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) (rs145890213)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259055 SCV000113854 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000259055 SCV000153496 benign not specified 2018-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293375 SCV000470832 uncertain significance Cohen syndrome 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics,Fulgent Genetics RCV000293375 SCV000611533 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000293375 SCV000755402 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718284 SCV000849146 likely benign History of neurodevelopmental disorder 2018-09-19 criteria provided, single submitter clinical testing Sub-population frequency in support of benign classification (not ava blue, manual h-w);In silico models in agreement (benign)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.