ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)

gnomAD frequency: 0.00029  dbSNP: rs184693266
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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) RCV000251331 SCV000113831 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251331 SCV000316194 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298732 SCV000470798 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.
Athena Diagnostics RCV000711297 SCV000841637 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000298732 SCV001012453 benign Cohen syndrome 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000298732 SCV001653463 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000711297 SCV001868369 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711297 SCV002063203 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing VPS13B: BP4, BS2
Ambry Genetics RCV002345398 SCV002621276 benign Inborn genetic diseases 2019-11-11 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.
Natera, Inc. RCV000298732 SCV002082524 benign Cohen syndrome 2019-10-21 no assertion criteria provided clinical testing

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