ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)

dbSNP: rs1057519392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000417037 SCV000485005 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome no assertion criteria provided clinical testing

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