ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)

gnomAD frequency: 0.00331  dbSNP: rs140848350
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081885 SCV000113820 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081885 SCV000153485 benign not specified 2016-05-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224853 SCV000281536 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081885 SCV000316189 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306903 SCV000470775 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000081885 SCV000512676 benign not specified 2015-07-20 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 RCV000306903 SCV000630864 benign Cohen syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311678 SCV000846772 benign Inborn genetic diseases 2016-03-11 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.
Athena Diagnostics RCV000081885 SCV001475028 benign not specified 2020-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000306903 SCV001454813 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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