ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2180A>G (p.Tyr727Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150655 SCV003838064 likely benign Cardiomyopathy 2022-02-24 criteria provided, single submitter clinical testing
GeneDx RCV004593218 SCV005080658 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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