ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) (rs200503016)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242895 SCV000319633 uncertain significance Cardiovascular phenotype 2018-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000172209 SCV000844785 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172209 SCV000054903 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172209 SCV000855112 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765548 SCV000896863 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000172209 SCV000981676 likely benign not provided 2018-03-12 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.
Genetic Services Laboratory, University of Chicago RCV000499612 SCV000597684 uncertain significance not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV000528669 SCV000643866 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-25 criteria provided, single submitter clinical testing

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