ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) (rs368270588)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725849 SCV000339933 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
GeneDx RCV000154914 SCV000730414 likely benign not specified 2017-09-18 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154914 SCV000204596 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Arg23690Arg in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/6556 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Arg23690Arg in exon 275 of TTN (allele freque ncy = 1/6556) **

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