ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.86-3del

dbSNP: rs151153333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338949 SCV000404241 likely benign Glycogen storage disease due to muscle beta-enolase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000338949 SCV001717886 benign Glycogen storage disease due to muscle beta-enolase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675377 SCV001866467 benign not provided 2016-01-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675377 SCV000801043 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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