ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2331+24T>C

gnomAD frequency: 0.13841  dbSNP: rs2304831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254178 SCV000302676 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527105 SCV001737954 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675243 SCV001841666 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675243 SCV005214234 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675243 SCV000800890 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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