ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) (rs386834117)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000050111 SCV000803862 likely pathogenic Cohen syndrome 2015-04-08 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050111 SCV000082520 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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