ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)

gnomAD frequency: 0.00194  dbSNP: rs113454700
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504487 SCV000597904 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000504487 SCV000703875 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316452 SCV000850237 benign Inborn genetic diseases 2016-10-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000872005 SCV001013750 benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872005 SCV001322582 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.
CeGaT Center for Human Genetics Tuebingen RCV003431054 SCV004158285 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
Natera, Inc. RCV000872005 SCV001462040 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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