ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp)

gnomAD frequency: 0.00026  dbSNP: rs148496595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501140 SCV000593049 uncertain significance not specified 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000904423 SCV001048939 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000904423 SCV002496681 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ADNP: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003932805 SCV004751419 likely benign ADNP-related condition 2021-05-19 criteria provided, single submitter 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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