ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31762+5_31762+7del

dbSNP: rs397517538
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040124 SCV000063815 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing c.28030+5_28030+7delGCC in intron 118 of TTN: This variant is not expected to ha ve clinical significance because it has been identified in 0.04% (10/25696) of F innish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs397517538). In addition, this variant is located in the 5' splice region and computational tools do not suggest an impact to splicing. ACMG/AMP Criteria applied: BS1; BP4.
Invitae RCV000459619 SCV000542245 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000040124 SCV000565638 benign not specified 2015-10-20 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.
Athena Diagnostics Inc RCV000714012 SCV000844675 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000714012 SCV000855270 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714012 SCV001152992 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TTN: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000714012 SCV001742672 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000714012 SCV001920584 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000714012 SCV001959378 likely benign not provided no assertion criteria provided clinical testing

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