ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)

gnomAD frequency: 0.00001  dbSNP: rs369237346
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118793 SCV000153406 uncertain significance not provided 2014-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000118793 SCV000339208 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769865 SCV000901291 uncertain significance Cardiomyopathy 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000118793 SCV001820674 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000118793 SCV003826656 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing

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