ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) (rs199895260)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621320 SCV000735296 likely benign Cardiovascular phenotype 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other strong data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172651 SCV000051443 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768965 SCV000900338 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040447 SCV000333886 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000040447 SCV000237381 likely benign not specified 2017-10-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000378989 SCV000422467 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279995 SCV000422468 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335020 SCV000422469 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401779 SCV000422470 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300024 SCV000422471 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350304 SCV000422472 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464615 SCV000555175 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040447 SCV000064138 likely benign not specified 2016-01-13 criteria provided, single submitter clinical testing p.Arg18073Gln in exon 253 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.4% (280/66722) of European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs199895260).

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