ClinVar Miner

Submissions for variant NM_018036.7(ATG2B):c.669C>T (p.Leu223=)

gnomAD frequency: 0.00637  dbSNP: rs79662280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822269 SCV002066301 benign not specified 2021-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706251 SCV005210885 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003976216 SCV004795395 benign ATG2B-related disorder 2020-01-06 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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