ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)

gnomAD frequency: 0.00003  dbSNP: rs752903377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615121 SCV000714898 likely benign not specified 2018-01-10 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.
Eurofins Ntd Llc (ga) RCV000732481 SCV000860446 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769040 SCV000900413 uncertain significance Cardiomyopathy 2015-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732481 SCV003822881 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing

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