ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) (rs397517660)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040489 SCV000064180 likely benign not specified 2012-05-17 criteria provided, single submitter clinical testing Glu19161Glu in exon 260 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Glu19161Glu in exon 260 of TTN (allele fre quency = n/a)
Genetic Services Laboratory, University of Chicago RCV000040489 SCV000249277 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170805 SCV001333423 benign Cardiomyopathy 2017-11-02 criteria provided, single submitter clinical testing

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