ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV002468766 SCV002764836 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2020-08-28 criteria provided, single submitter clinical testing

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