ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1341+8del

dbSNP: rs2135995386
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520515 SCV001729624 benign Glycogen storage disease, type VII 2020-10-21 criteria provided, single submitter clinical testing

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