ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr)

gnomAD frequency: 0.00011  dbSNP: rs745861253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885928 SCV001029405 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000885928 SCV001812293 likely benign not provided 2023-10-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV002253667 SCV002524706 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539347 SCV003680219 likely benign Inborn genetic diseases 2022-03-21 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.

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