ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)

gnomAD frequency: 0.00096  dbSNP: rs150573530
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154131 SCV000203795 uncertain significance not provided 2014-03-18 criteria provided, single submitter clinical testing
Invitae RCV001082857 SCV000755400 benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082857 SCV001321006 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.
Ambry Genetics RCV002381489 SCV002694038 likely benign Inborn genetic diseases 2017-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003975207 SCV004797697 likely benign VPS13B-related disorder 2023-02-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001082857 SCV002082724 likely benign Cohen syndrome 2019-10-24 no assertion criteria provided clinical testing

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