ClinVar Miner

Submissions for variant NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)

dbSNP: rs548538086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365123 SCV000404250 likely benign Glycogen storage disease due to muscle beta-enolase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000365123 SCV001121512 benign Glycogen storage disease due to muscle beta-enolase deficiency 2024-01-29 criteria provided, single submitter clinical testing

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