ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1264_1265del (p.Lys422fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004794717 SCV005414403 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-11-25 criteria provided, single submitter clinical testing

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