ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) (rs72650040)

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Total submissions: 7
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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 RCV000172680 SCV000055027 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770057 SCV000901483 likely benign Cardiomyopathy 2016-10-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040158 SCV000337324 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000040158 SCV000237096 likely benign not specified 2018-01-10 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 RCV000204230 SCV000261628 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040158 SCV000063849 likely benign not specified 2012-04-25 criteria provided, single submitter clinical testing Arg9895Thr in exon 140 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (28/6630) of European American chromosomes by the NHLBI Exome Sequencing Project ( EVS/rs72650040). Arg9895Thr in exon 140 of TTN (rs72650040; allele frequency = 0.4%, 28/6630) **
PreventionGenetics RCV000040158 SCV000315472 likely benign not specified criteria provided, single submitter clinical testing

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