ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51256C>T (p.Arg17086Cys)

gnomAD frequency: 0.00004  dbSNP: rs751267287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842611 SCV000984640 likely benign not provided 2018-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486937 SCV004239934 likely benign Cardiomyopathy 2022-08-04 criteria provided, single submitter clinical testing

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