ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.135C>T (p.Thr45=)

gnomAD frequency: 0.00001  dbSNP: rs752964406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001461538 SCV001665439 likely benign Glycogen storage disease type III 2023-11-07 criteria provided, single submitter clinical testing

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