ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1900-6T>C

gnomAD frequency: 0.00002  dbSNP: rs749096703
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436225 SCV000525470 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503716 SCV001708574 likely benign Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001503716 SCV004049977 likely benign Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897887 SCV004708660 likely benign AGL-related disorder 2022-11-22 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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