ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.5004dup (p.Lys1669Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004773702 SCV005383229 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 334 amino acids are lost in a gene for which loss-of-function is not a known mechanism of disease; 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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