ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.404dup (p.Leu135fs)

dbSNP: rs386834083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090388 SCV001245915 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050074 SCV000082483 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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