ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5077-13G>A

gnomAD frequency: 0.00004  dbSNP: rs376055963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664920 SCV000788953 uncertain significance Cohen syndrome 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV000664920 SCV001657916 likely benign Cohen syndrome 2024-01-25 criteria provided, single submitter clinical testing

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