ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.843C>T (p.His281=)

gnomAD frequency: 0.00023  dbSNP: rs138694766
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725360 SCV000336319 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000366745 SCV000532517 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080886 SCV001017187 likely benign GNE myopathy; Sialuria 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920068 SCV004734639 likely benign GNE-related condition 2020-01-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273957 SCV001457587 likely benign GNE myopathy 2020-01-02 no assertion criteria provided clinical testing

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