ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7247+9T>C

gnomAD frequency: 0.00001  dbSNP: rs545008110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501128 SCV000597888 uncertain significance not specified 2016-06-13 criteria provided, single submitter clinical testing
Invitae RCV001450203 SCV001653804 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001450203 SCV002082643 likely benign Cohen syndrome 2021-03-13 no assertion criteria provided clinical testing

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