ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.91G>A (p.Glu31Lys)

dbSNP: rs2102370617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244194 SCV002512555 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-11-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP2 supporting, BP4 supporting

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