ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.617-2A>G

dbSNP: rs1554661582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596372 SCV000704434 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465342 SCV004191637 likely pathogenic GNE myopathy 2023-07-19 criteria provided, single submitter clinical testing

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