ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) (rs56061641)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242557 SCV000320045 benign Cardiovascular phenotype 2015-08-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000487595 SCV000844805 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487595 SCV000575271 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040891 SCV000340123 likely benign not specified 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000040891 SCV000237877 likely benign not specified 2016-06-06 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.
Invitae RCV000549681 SCV000644011 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040891 SCV000064582 benign not specified 2013-11-08 criteria provided, single submitter clinical testing Cys30736Arg in exon 305 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (6/192) of Luhya chromosomes b y the 1000 Genomes Project (dbSNP rs56061641).

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