ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) (rs370973715)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725629 SCV000338297 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000154966 SCV000720416 likely benign not specified 2017-06-13 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 RCV000476419 SCV000555434 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154966 SCV000204648 likely benign not specified 2013-08-07 criteria provided, single submitter clinical testing Leu7732Leu in exon 90 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/3920 African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS). Leu7732Leu in exon 90 of TTN (allele frequency = 2/3920) **

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