ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) (rs34618570)

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Total submissions: 10
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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 RCV000041095 SCV000051641 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041095 SCV000064786 benign not specified 2015-05-20 criteria provided, single submitter clinical testing p.Ile3956Phe in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 2.2% (145/6608) of Finnish chromos omes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs34618570).
GeneDx RCV000041095 SCV000238177 benign not specified 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.
Invitae RCV000229415 SCV000286436 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041095 SCV000307154 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041095 SCV000336075 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619226 SCV000735103 benign Cardiovascular phenotype 2016-02-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770112 SCV000901538 benign Cardiomyopathy 2016-12-28 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000770112 SCV000995665 benign Cardiomyopathy 2019-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286257 SCV001472795 benign none provided 2020-01-05 criteria provided, single submitter clinical testing

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