ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.858+7_858+8insAGCAGGC

dbSNP: rs3071247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288984 SCV000344069 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV000631107 SCV000752102 likely benign Glycogen storage disease, type II 2024-01-24 criteria provided, single submitter clinical testing

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