ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter)

dbSNP: rs386834094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050085 SCV000082494 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000050085 SCV001432302 likely pathogenic Cohen syndrome no assertion criteria provided clinical testing

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