ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30443C>T (p.Ser10148Leu)

gnomAD frequency: 0.00001  dbSNP: rs766069724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757064 SCV001996585 uncertain significance not provided 2019-10-30 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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799125 SCV002042428 uncertain significance Cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing

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