ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys)

gnomAD frequency: 0.00001  dbSNP: rs1981147662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328892 SCV001520128 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2020-01-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001328892 SCV002814629 uncertain significance ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2022-03-21 criteria provided, single submitter clinical testing

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