ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9330+9A>G

gnomAD frequency: 0.00261  dbSNP: rs184381851
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000395399 SCV000153498 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000395399 SCV000332962 benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624961 SCV000743194 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624961 SCV000744237 likely benign Cohen syndrome 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000624961 SCV000755411 benign Cohen syndrome 2024-01-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000395399 SCV001923970 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000624961 SCV002082706 likely benign Cohen syndrome 2019-12-06 no assertion criteria provided clinical testing

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