ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) (rs72648205)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040638 SCV000064329 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing The p.Gly23730Arg variant in TTN has been identified by our laboratory in 3 Cauc asian adults with HCM and one of these individuals also carries a pathogenic var iant in another gene. It has been identified in 29/66110 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s72648205). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Gly23730Arg variant is uncertain.
GeneDx RCV000040638 SCV000237582 likely benign not specified 2018-01-02 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.
Ambry Genetics RCV000247997 SCV000317765 uncertain significance Cardiovascular phenotype 2012-09-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726516 SCV000701544 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
Invitae RCV000643181 SCV000764868 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-18 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852809 SCV000995538 likely benign Premature ventricular contraction 2019-03-25 criteria provided, single submitter clinical testing

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