ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) (rs769817524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768104 SCV000899019 uncertain significance Transcobalamin II deficiency 2018-08-10 criteria provided, single submitter clinical testing TCN2 NM_000355.3 exon 8 p.Arg399Gly (c.1195C>G): This variant has not been reported in the literature, and it is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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