ClinVar Miner

Submissions for variant NM_133378.4(TTN):c.51640+3G>A (rs142095604)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154935 SCV000169310 benign not specified 2014-04-22 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154935 SCV000204617 likely benign not specified 2015-06-22 criteria provided, single submitter clinical testing c.51640+3G>A in intron 249 of TTN: This variant is not expected to have clinica l significance because it does not cause the splice site sequence to diverge fro m consensus. It has also been identified in 0.3% (21/8450) of East Asian chromos omes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSNP rs142095604).
Invitae RCV000727110 SCV000286749 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248538 SCV000318621 uncertain significance Cardiovascular phenotype 2013-09-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335560 SCV000422575 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390425 SCV000422576 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304853 SCV000422577 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359571 SCV000422578 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264865 SCV000422579 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310825 SCV000422580 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727110 SCV000705760 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769994 SCV000901420 likely benign Cardiomyopathy 2017-03-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852833 SCV000995563 likely benign Ventricular tachycardia 2019-04-01 criteria provided, single submitter clinical testing

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