ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) (rs587780487)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118749 SCV000153250 uncertain significance not provided 2013-12-02 criteria provided, single submitter clinical testing
Invitae RCV001081662 SCV000286593 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000602183 SCV000729419 benign not specified 2018-01-30 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852871 SCV000995605 likely benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256704 SCV001433107 uncertain significance Arrhythmogenic right ventricular dysplasia, familial 1 2019-01-30 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293148 SCV001434138 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287611 SCV001474317 benign none provided 2020-06-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000602183 SCV001653060 benign not specified 2020-06-14 criteria provided, single submitter clinical testing The p.Val10140_Glu10146del variant in TTN is classified as benign because it has been identified in 0.56% (173/30572) of South Asian chromosomes, including 4 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.

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