ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.83-17_83-16del

gnomAD frequency: 0.00001  dbSNP: rs751326594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666048 SCV000790282 likely benign Glycogen storage disease type III 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV000666048 SCV003782249 likely benign Glycogen storage disease type III 2023-07-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000666048 SCV004049908 likely benign Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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