ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2086del (p.Glu696fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468858 SCV002765044 pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive 2022-12-16 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM3, PM2_SUP

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