ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.2309G>A (p.Trp770Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005052607 SCV005686081 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 69 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; 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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