ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) (rs148434577)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040482 SCV000064173 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Ile1899Ile in exon 28 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant has been identified in 30/66738 European chromosomes, including 1 homozygote by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs148434577).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040482 SCV000342225 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000040482 SCV000518167 benign not specified 2015-10-28 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 RCV000040482 SCV000597677 likely benign not specified 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001079984 SCV000643406 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617774 SCV000736951 likely benign Cardiovascular phenotype 2017-11-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000537033 SCV001153183 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170111 SCV001332650 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing

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