ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.661-5del

dbSNP: rs768761419
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001523458 SCV001733164 benign Glycogen storage disease, type V 2023-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850323 SCV000992498 uncertain significance Myopathy no assertion criteria provided clinical testing

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