ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) (rs72648942)

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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 RCV000039891 SCV000051747 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039891 SCV000063582 benign not specified 2017-08-18 criteria provided, single submitter clinical testing p.Tyr4439Cys in exon 55 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1% (103/10130) of Ashkenazi chromos omes, including 3 homozygotes, by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs72648942).
Genetic Services Laboratory, University of Chicago RCV000118738 SCV000153178 likely benign not provided 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000039891 SCV000238236 benign not specified 2017-03-16 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 RCV000118738 SCV000286464 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252018 SCV000317992 likely benign Cardiovascular phenotype 2013-10-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039891 SCV000333669 benign not specified 2015-08-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376512 SCV000424568 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284293 SCV000424569 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336946 SCV000424570 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394055 SCV000424571 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297377 SCV000424572 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335998 SCV000424573 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000118738 SCV000610560 likely benign not provided 2017-05-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770092 SCV000901518 likely benign Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852908 SCV000995648 benign Brugada syndrome 2018-02-27 criteria provided, single submitter clinical testing

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