ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2568C>T (p.Val856=)

gnomAD frequency: 0.10055  dbSNP: rs1062651
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312328 SCV000846382 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001534558 SCV001751501 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001534558 SCV002461464 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253581 SCV002524715 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534558 SCV005314539 benign not provided criteria provided, single submitter not provided

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