ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2836del (p.Asp946fs)

dbSNP: rs1571326296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824841 SCV000965735 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2016-01-01 criteria provided, single submitter clinical testing

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