ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) (rs72677232)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251802 SCV000319558 likely benign Cardiovascular phenotype 2017-12-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172668 SCV000051456 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769009 SCV000900382 uncertain significance Cardiomyopathy 2016-11-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172668 SCV000575281 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre RCV000767391 SCV000840457 likely pathogenic Limb-girdle muscular dystrophy 2018-10-18 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172668 SCV000335872 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000040278 SCV000237210 likely benign not specified 2017-12-15 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 RCV000356826 SCV000423145 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262089 SCV000423146 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331321 SCV000423147 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385584 SCV000423148 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296178 SCV000423149 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332423 SCV000423150 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204115 SCV000262127 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040278 SCV000063969 likely benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Val13182Ile in exon 201 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (172/67614) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72677232).

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