ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) (rs72646850)

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Total submissions: 15
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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 RCV000040458 SCV000051692 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040458 SCV000064149 benign not specified 2012-02-17 criteria provided, single submitter clinical testing Thr18440Ile in exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.5% (103/6642) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs72646850).
GeneDx RCV000040458 SCV000169316 benign not specified 2012-11-19 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 RCV000227874 SCV000286770 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040458 SCV000315524 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244586 SCV000318222 benign Cardiovascular phenotype 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402226 SCV000422407 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300915 SCV000422408 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337155 SCV000422409 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408153 SCV000422410 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311428 SCV000422411 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370589 SCV000422412 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769989 SCV000901415 benign Cardiomyopathy 2015-12-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852828 SCV000995557 benign Cardiomyopathy; Congestive heart failure; Hypertrophic cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040458 SCV000153320 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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