ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser)

gnomAD frequency: 0.00001  dbSNP: rs762186948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991842 SCV001143643 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275856 SCV001461440 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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