ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)

dbSNP: rs2039275157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Therapies Laboratory, Murdoch University RCV001078140 SCV001156138 pathogenic Glycogen storage disease, type II no assertion criteria provided clinical testing Low GAA enzyme activity (<0.1 units); urine tetrasaccharides elevated (150 units); respiratory functions normal
OMIM RCV004794471 SCV005415392 pathogenic GLYCOGEN STORAGE DISEASE II, ADULT FORM 2024-11-25 no assertion criteria provided literature only

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