ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) (rs72648994)

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Total submissions: 8
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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 RCV000118747 SCV000055042 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000118747 SCV000153227 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000154969 SCV000188846 likely benign not specified 2014-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154969 SCV000204651 benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Ile7711Val in exon 90 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (162/5240) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72648994).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154969 SCV000233213 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000154969 SCV000238383 benign not specified 2017-04-20 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 RCV001082127 SCV000555658 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170861 SCV001333482 benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing

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