ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.216C>T (p.Pro72=)

gnomAD frequency: 0.00002  dbSNP: rs753287841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089244 SCV000752098 likely benign Glycogen storage disease, type II 2024-01-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728964 SCV000856593 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001089244 SCV001810185 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing

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