ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.1067+18C>T

gnomAD frequency: 0.00268  dbSNP: rs191862496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418079 SCV000518693 benign not specified 2016-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062333 SCV002346898 benign Glycogen storage disease due to muscle beta-enolase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711052 SCV005254763 benign not provided criteria provided, single submitter not provided

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