ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.18G>A (p.Pro6=)

dbSNP: rs774703637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734530 SCV000862680 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
Invitae RCV001080426 SCV001097819 likely benign Glycogen storage disease, type II 2023-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080426 SCV001810591 likely benign Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080426 SCV002091880 likely benign Glycogen storage disease, type II 2021-02-05 no assertion criteria provided clinical testing

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