ClinVar Miner

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

gnomAD frequency: 0.00685  dbSNP: rs72646851
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Total submissions: 17
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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,Mass General Brigham 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; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-18 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
Genome-Nilou Lab RCV001839661 SCV002101058 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839662 SCV002101060 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839663 SCV002101061 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839660 SCV002101062 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000040459 SCV001923248 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000040459 SCV001959904 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000040459 SCV001968789 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000040459 SCV001978300 benign not specified no assertion criteria provided clinical testing

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