ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.3476_3477insTAC (p.Val1159_Val1160insThr)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003493297 SCV004239251 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-01-22 criteria provided, single submitter clinical testing

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