ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr)

dbSNP: rs754548698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327681 SCV001518766 uncertain significance Cohen syndrome 2021-08-31 criteria provided, single submitter clinical testing

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