ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) (rs72646851)

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Total submissions: 9
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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 RCV000040459 SCV000054966 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040459 SCV000064150 benign not specified 2012-08-15 criteria provided, single submitter clinical testing Arg18441Gln in Exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (68/3122) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72646851).
GeneDx RCV000040459 SCV000236669 benign not specified 2014-07-09 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 RCV000229440 SCV000286771 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251094 SCV000318799 benign Cardiovascular phenotype 2017-09-28 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 RCV000769988 SCV000901414 likely benign Cardiomyopathy 2015-10-23 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852827 SCV000995556 benign Cardiomyopathy; Long QT syndrome; Heart failure 2019-06-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040459 SCV001370618 likely benign not specified 2020-05-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040459 SCV001475799 benign not specified 2020-07-13 criteria provided, single submitter clinical testing

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