ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2076G>A (p.Lys692=)

gnomAD frequency: 0.03400  dbSNP: rs6096168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312327 SCV000846380 benign Inborn genetic diseases 2016-05-06 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 RCV001653985 SCV001870008 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001653985 SCV002322040 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253580 SCV002524720 benign ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2021-12-05 criteria provided, single submitter clinical testing

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