ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11392+8G>A

gnomAD frequency: 0.00242  dbSNP: rs147921058
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876011 SCV001018515 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975481 SCV004798565 benign VPS13B-related disorder 2021-10-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000876011 SCV001462036 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702059 SCV001932026 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702059 SCV001975500 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001702059 SCV001979092 likely benign not provided no assertion criteria provided clinical testing

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