ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) (rs138661755)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260271 SCV000470783 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory,University of Chicago RCV000502307 SCV000597883 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710110 SCV000616268 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV000260271 SCV000755430 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716308 SCV000847148 likely benign History of neurodevelopmental disorder 2016-08-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000502307 SCV000863269 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000710110 SCV000969102 likely benign not provided 2018-05-14 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.

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