ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39127+10A>C (rs397517554)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040189 SCV000063880 likely benign not specified 2015-08-27 criteria provided, single submitter clinical testing c.31825+10A>C in intron 156 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. It has been identified in 0.7% (89/11510) of Latino chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs397517554).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040189 SCV000337898 benign not specified 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000040189 SCV000515123 benign not specified 2015-03-27 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 RCV000467017 SCV000555201 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040189 SCV000597656 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171022 SCV001333691 benign Cardiomyopathy 2017-11-13 criteria provided, single submitter clinical testing

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