ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)

dbSNP: rs375229257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001272469 SCV001671549 likely benign Cohen syndrome 2021-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272469 SCV001454483 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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