ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) (rs200431386)

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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 RCV000041104 SCV000064795 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing Arg4163Gln in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (15/3002) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Arg4163Gln in exon 45B of TTN (allele frequency = 0. 5%, 15/3002) **
GeneDx RCV000041104 SCV000238182 likely benign not specified 2017-06-26 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.
Ambry Genetics RCV000246916 SCV000320095 likely benign Cardiovascular phenotype 2018-08-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041104 SCV000333898 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Invitae RCV000469656 SCV000555648 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041104 SCV000615992 benign not specified 2016-10-28 criteria provided, single submitter clinical testing

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