ClinVar Miner

Submissions for variant NM_002863.4(PYGL):c.-127A>G

gnomAD frequency: 0.20002  dbSNP: rs67490748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332559 SCV000386939 benign Glycogen storage disease, type VI 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001636889 SCV001852394 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636889 SCV005294744 benign not provided criteria provided, single submitter not provided

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