ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43766C>T (p.Thr14589Ile)

gnomAD frequency: 0.00002  dbSNP: rs1171658402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576374 SCV001803543 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001576374 SCV004225875 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing BP1

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