ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)

dbSNP: rs1980763449
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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 RCV001262325 SCV001440148 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2019-01-01 criteria provided, single submitter clinical testing

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