ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1634-4G>T

gnomAD frequency: 0.00003  dbSNP: rs1021602666
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065601 SCV002348119 likely benign GNE myopathy; Sialuria 2023-03-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273950 SCV001457577 uncertain significance GNE myopathy 2020-03-17 no assertion criteria provided clinical testing

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