ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2112A>C (p.Ala704=)

dbSNP: rs1449566083
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280480 SCV002322208 likely benign Glycogen storage disease, type II 2024-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280480 SCV001467662 uncertain significance Glycogen storage disease, type II 2020-08-14 no assertion criteria provided clinical testing

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