ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.790CTG[4] (p.Leu266_Cys267insLeu)

dbSNP: rs2134150102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002267246 SCV002549241 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; In-frame insertion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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