ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.21C>T (p.Asn7=)

gnomAD frequency: 0.00014  dbSNP: rs774610596
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 RCV000876295 SCV001018853 likely benign GNE myopathy; Sialuria 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279915 SCV001467052 likely benign GNE myopathy 2020-10-06 no assertion criteria provided clinical testing

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