ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) (rs72677233)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040280 SCV000051729 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040280 SCV000063971 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing p.Arg13204Gln in exon 202 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.5% (314/66358) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72677233).
GeneDx RCV000040280 SCV000237211 benign not specified 2017-01-24 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 RCV000225870 SCV000286684 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254435 SCV000318127 likely benign Cardiovascular phenotype 2013-09-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040280 SCV000332587 likely benign not specified 2015-07-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352447 SCV000423133 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392384 SCV000423134 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289426 SCV000423135 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343876 SCV000423136 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404240 SCV000423137 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308756 SCV000423138 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852855 SCV000995587 benign Atrial fibrillation; Dilated cardiomyopathy 2019-06-11 criteria provided, single submitter clinical testing

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