ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter)

dbSNP: rs2122743080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814826 SCV002061677 pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-11-04 criteria provided, single submitter clinical testing PVS1, PS2, PM2
Laboratory of Medical Genetics, University of Torino RCV001814826 SCV004171093 pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder criteria provided, single submitter clinical testing

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