ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11430del (p.Lys3810fs)

dbSNP: rs386834062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000050049 SCV005416256 pathogenic Cohen syndrome criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM3+PP4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050049 SCV000082458 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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