ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) (rs72677237)

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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 RCV000247850 SCV000318346 benign Cardiovascular phenotype 2013-10-24 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040285 SCV000051647 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769006 SCV000900379 benign Cardiomyopathy 2016-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040285 SCV000332475 benign not specified 2015-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000040285 SCV000237219 benign not specified 2016-06-28 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 RCV000402448 SCV000423097 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297404 SCV000423098 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354565 SCV000423099 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275994 SCV000423100 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314764 SCV000423101 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367145 SCV000423102 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232569 SCV000286686 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040285 SCV000063976 benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Arg13340His in exon 203 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.5% (444/30398) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72677237).

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