ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)

dbSNP: rs754443525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988103 SCV001137689 likely benign Cohen syndrome 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000988103 SCV005051996 likely pathogenic Cohen syndrome 2024-02-01 criteria provided, single submitter curation

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