ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu)

gnomAD frequency: 0.00008  dbSNP: rs201104498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895825 SCV001039891 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000895825 SCV001835891 benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253674 SCV002524710 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434190 SCV002749476 likely benign Inborn genetic diseases 2018-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV004740493 SCV005362378 likely benign ADNP-related disorder 2024-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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