ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2089dup (p.Gln697fs)

dbSNP: rs2122747616
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002255777 SCV002526678 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2022-05-06 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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