ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs)

dbSNP: rs2102145038
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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 RCV002244193 SCV002512554 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2022-01-25 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderate

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