ClinVar Miner

Submissions for variant NM_001004320.2(AGMO):c.1263+8del

gnomAD frequency: 0.00050  dbSNP: rs770368536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504212 SCV000593065 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932808 SCV004747903 likely benign AGMO-related disorder 2019-07-01 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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