ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1158del (p.Lys386fs)

dbSNP: rs1057516275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409869 SCV000485397 likely pathogenic GNE myopathy 2015-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409869 SCV004199386 likely pathogenic GNE myopathy 2023-09-19 criteria provided, single submitter clinical testing

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