ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)

gnomAD frequency: 0.00003  dbSNP: rs775883776
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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) RCV000725620 SCV000338228 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000337184 SCV000597893 likely benign not specified 2017-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086952 SCV001087605 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086952 SCV001320896 uncertain significance Cohen syndrome 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences RCV003957440 SCV004768657 likely benign VPS13B-related disorder 2020-07-25 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. RCV001086952 SCV001460987 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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