ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=)

gnomAD frequency: 0.00001  dbSNP: rs749637946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489660 SCV001694208 likely benign Cohen syndrome 2024-01-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699555 SCV001926162 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699555 SCV001971514 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001489660 SCV002082810 likely benign Cohen syndrome 2019-10-25 no assertion criteria provided clinical testing

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