ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.444C>T (p.Tyr148=)

gnomAD frequency: 0.00001  dbSNP: rs886043112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353451 SCV000338503 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV001445404 SCV001648435 likely benign Glycogen storage disease, type II 2024-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001445404 SCV001810251 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing

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