ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)

gnomAD frequency: 0.00001  dbSNP: rs185477101
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906902 SCV001051570 likely benign Cohen syndrome 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000906902 SCV001454476 uncertain significance Cohen syndrome 2020-03-11 no assertion criteria provided clinical testing

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