ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) (rs114711705)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040398 SCV000064089 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Arg16660His in exon 244 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (19/3144) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs114711705) Arg16660His in exon 244 of T TN (rs114711705; allele frequency = 0.6% 19/3144) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040398 SCV000203703 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000040398 SCV000237337 benign not specified 2015-10-29 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 RCV001083744 SCV000555234 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620713 SCV000736535 benign Cardiovascular phenotype 2016-01-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000458036 SCV001146443 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287315 SCV001473990 likely benign none provided 2019-08-02 criteria provided, single submitter clinical testing

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