ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) (rs374156904)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250709 SCV000318461 uncertain significance Cardiovascular phenotype 2013-02-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769900 SCV000901326 benign Cardiomyopathy 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180762 SCV000233250 likely benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000180762 SCV000238394 likely benign not specified 2017-07-10 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 RCV000232509 SCV000286554 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000180762 SCV000270998 likely benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Arg8272His in exon 96 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (47/8642) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374156904).

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