ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) (rs181717727)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154930 SCV000114418 benign not specified 2015-06-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154930 SCV000204612 likely benign not specified 2015-04-01 criteria provided, single submitter clinical testing p.Gly19020Arg in exon 259 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.8% (78/9730) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181717727).
GeneDx RCV000154930 SCV000237421 benign not specified 2015-04-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000387608 SCV000422335 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272166 SCV000422336 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329528 SCV000422337 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381758 SCV000422338 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289674 SCV000422339 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342201 SCV000422340 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468946 SCV000555347 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619243 SCV000735189 benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852823 SCV000995552 benign Dilated cardiomyopathy 2019-05-08 criteria provided, single submitter clinical testing

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