ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4224+684T>G

gnomAD frequency: 0.00001  dbSNP: rs779176548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248219 SCV001421689 uncertain significance Cohen syndrome 2021-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248219 SCV002082537 uncertain significance Cohen syndrome 2021-05-04 no assertion criteria provided clinical testing

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