ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)

dbSNP: rs1598577393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985050 SCV001132990 uncertain significance Glycogen storage disease, type II 2019-08-25 no assertion criteria provided clinical testing

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