ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2942_2945dup (p.Phe983fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990032 SCV004806243 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-03-25 criteria provided, single submitter clinical testing

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