ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val)

dbSNP: rs1811867338
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252627 SCV001428388 likely pathogenic Cohen syndrome 2019-01-01 no assertion criteria provided clinical testing

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