ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs)

dbSNP: rs2127871067
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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 RCV002244190 SCV002512550 likely pathogenic Intellectual developmental disorder, autosomal dominant 64 2022-01-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderate

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