ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.693-10T>C

dbSNP: rs2143845612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401674 SCV001603503 likely benign Glycogen storage disease, type II 2019-09-25 criteria provided, single submitter clinical testing

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