ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) (rs182126530)

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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 RCV000040668 SCV000051472 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040668 SCV000064359 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile24612Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (18/3170) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). Ile24612Thr in exon 275 of TTN (allele frequency = 0.6%, 18/3170) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040668 SCV000228530 likely benign not specified 2014-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000040668 SCV000237616 likely benign not specified 2017-12-28 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.
Invitae RCV001086543 SCV000555017 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620281 SCV000737342 likely benign Cardiovascular phenotype 2018-12-24 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other strong data
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768913 SCV000900286 likely benign Cardiomyopathy 2016-07-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000461664 SCV001152721 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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