ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1403+49C>A

gnomAD frequency: 0.73109  dbSNP: rs2959652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244365 SCV000311164 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533325 SCV001749180 benign Glycogen storage disease, type V 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001683054 SCV001896713 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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