ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3259+37G>A

gnomAD frequency: 0.65860  dbSNP: rs594249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246558 SCV000305391 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835491 SCV000977284 benign not provided 2018-06-18 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.
Genome-Nilou Lab RCV001549089 SCV001769173 benign Glycogen storage disease type III 2021-07-14 criteria provided, single submitter clinical testing

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