ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11745+4C>T

gnomAD frequency: 0.00001  dbSNP: rs751045565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514705 SCV000609710 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829460 SCV002084995 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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