ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.531C>T (p.Asn177=)

dbSNP: rs886053544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314949 SCV000407263 uncertain significance Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000314949 SCV001674027 likely benign Glycogen storage disease, type II 2019-12-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000314949 SCV001810273 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing

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