ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)

gnomAD frequency: 0.00016  dbSNP: rs368851580
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195038 SCV000249413 likely benign not specified 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315519 SCV000849179 likely benign Inborn genetic diseases 2017-04-08 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.
Fulgent Genetics, Fulgent Genetics RCV000765982 SCV000897408 uncertain significance Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765982 SCV001098904 likely benign Cohen syndrome 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706171 SCV004158265 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003917778 SCV004736569 likely benign VPS13B-related disorder 2023-10-25 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. RCV000765982 SCV001460389 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001706171 SCV001919582 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706171 SCV001970626 likely benign not provided no assertion criteria provided clinical testing

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