ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.992T>G (p.Val331Gly)

dbSNP: rs1554660119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674936 SCV000800352 uncertain significance GNE myopathy 2018-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792369 SCV005410711 uncertain significance not provided 2024-07-16 criteria provided, single submitter clinical testing PP3, PM2, PM5

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