ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) (rs72650011)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172683 SCV000051751 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040102 SCV000063793 benign not specified 2015-02-10 criteria provided, single submitter clinical testing p.His8848Tyr in exon 104 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (76/6614) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72650011).
GeneDx RCV000040102 SCV000237054 benign not specified 2016-08-23 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 RCV000040102 SCV000249250 uncertain significance not specified 2014-06-03 criteria provided, single submitter clinical testing
Invitae RCV001081687 SCV000286563 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040102 SCV000332661 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282068 SCV000884767 benign none provided 2020-07-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768893 SCV000900266 likely benign Cardiomyopathy 2017-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000986941 SCV001136100 benign Dilated cardiomyopathy 1G 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172683 SCV001153007 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986941 SCV001292873 likely benign Dilated cardiomyopathy 1G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Blueprint Genetics RCV000143966 SCV000188847 uncertain significance Primary dilated cardiomyopathy 2013-09-27 no assertion criteria provided clinical testing

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