ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11495+6A>G

gnomAD frequency: 0.00070  dbSNP: rs116546060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500307 SCV000597902 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945518 SCV001091541 likely benign Cohen syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001568030 SCV001791824 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000945518 SCV001454486 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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