ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760183 SCV000890010 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2017-07-10 criteria provided, single submitter clinical testing

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