ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2935-4C>T

gnomAD frequency: 0.00003  dbSNP: rs207469601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669835 SCV000794627 uncertain significance Cohen syndrome 2017-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669835 SCV002425867 likely benign Cohen syndrome 2020-11-14 criteria provided, single submitter clinical testing

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