ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)

dbSNP: rs1057518939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415177 SCV000492974 pathogenic Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 2014-11-07 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196894 SCV001367528 pathogenic Cohen syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.

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