ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2047del (p.Gln683fs)

dbSNP: rs386834074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000050062 SCV002519955 pathogenic Cohen syndrome 2022-05-04 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050062 SCV000082471 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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