ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1071-4G>T

dbSNP: rs567349676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224908 SCV002503497 uncertain significance not provided 2020-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003089190 SCV003463093 likely benign GNE myopathy; Sialuria 2023-03-04 criteria provided, single submitter clinical testing

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