ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) (rs72648937)

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Total submissions: 16
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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 RCV000039884 SCV000051726 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039884 SCV000063575 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Val4161Met in exon 52 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (529/66228) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72648937).
GeneDx RCV000039884 SCV000169594 benign not specified 2016-11-28 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.
Genetic Services Laboratory, University of Chicago RCV000039884 SCV000249233 likely benign not specified 2014-11-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039884 SCV000315407 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242487 SCV000318339 likely benign Cardiovascular phenotype 2013-09-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039884 SCV000336615 benign not specified 2016-06-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318931 SCV000424604 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387402 SCV000424605 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293024 SCV000424606 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333991 SCV000424607 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387868 SCV000424608 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288743 SCV000424609 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458298 SCV000555609 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770101 SCV000901527 likely benign Cardiomyopathy 2017-05-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852911 SCV000995651 likely benign Heart failure 2017-03-14 criteria provided, single submitter clinical testing

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