ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3259+26A>G

gnomAD frequency: 0.00399  dbSNP: rs12073608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587049 SCV001819830 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941036 SCV004751683 benign AGL-related disorder 2020-09-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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