ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) (rs200052398)

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Total submissions: 6
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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 RCV000172452 SCV000051334 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172452 SCV000238069 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 27321809, 24667040)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172452 SCV000336845 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV000475682 SCV000542774 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622253 SCV000736673 likely benign Cardiovascular phenotype 2020-05-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171055 SCV001333724 uncertain significance Cardiomyopathy 2017-11-10 criteria provided, single submitter clinical testing

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