ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3084-5dup

dbSNP: rs773212374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451645 SCV001655284 likely benign Glycogen storage disease type III 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965887 SCV004786005 likely benign AGL-related disorder 2020-04-27 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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