ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)

dbSNP: rs386834064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000050051 SCV000023121 pathogenic Cohen syndrome 2010-10-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050051 SCV000082460 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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