ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter)

dbSNP: rs2122743549
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001823314 SCV002072642 pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-09-23 criteria provided, single submitter clinical testing

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