ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) (rs11900987)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618556 SCV000737261 likely benign Cardiovascular phenotype 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769105 SCV000900478 likely benign Cardiomyopathy 2015-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040871 SCV000337386 likely benign not specified 2016-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000040871 SCV000238052 likely benign not specified 2017-08-29 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.
Genetic Services Laboratory, University of Chicago RCV000040871 SCV000597676 likely benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000457548 SCV000555632 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040871 SCV000064562 benign not specified 2012-04-03 criteria provided, single submitter clinical testing Asn3026Ile in exon 38 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.85% (32/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs11900987)

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