ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) (rs72629787)

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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 RCV000040939 SCV000051712 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040939 SCV000064630 benign not specified 2012-04-10 criteria provided, single submitter clinical testing 2.6% (82/3172) of Afr American chrom in ESP
GeneDx RCV000040939 SCV000169469 benign not specified 2014-03-27 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 RCV000234006 SCV000286403 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252926 SCV000317918 benign Cardiovascular phenotype 2012-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357756 SCV000420085 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263000 SCV000420086 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318171 SCV000420087 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372904 SCV000420088 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259536 SCV000420089 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333455 SCV000420090 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768827 SCV000900200 benign Cardiomyopathy 2016-01-25 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852772 SCV000995493 benign Cardiomyopathy; Ventricular fibrillation 2019-05-20 criteria provided, single submitter clinical testing

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