ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1828-9T>A

gnomAD frequency: 0.00027  dbSNP: rs372338710
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695403 SCV000823900 uncertain significance Glycogen storage disease, type VI 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000695403 SCV000896399 uncertain significance Glycogen storage disease, type VI 2018-10-31 criteria provided, single submitter clinical testing

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