ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)

gnomAD frequency: 0.00392  dbSNP: rs72648994
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Total submissions: 14
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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 RCV000118747 SCV000055042 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Genetic Services Laboratory,University of Chicago RCV000118747 SCV000153227 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000154969 SCV000188846 likely benign not specified 2014-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000154969 SCV000204651 benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Ile7711Val in exon 90 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (162/5240) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72648994).
Eurofins NTD LLC (GA) RCV000154969 SCV000233213 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000154969 SCV000238383 benign not specified 2017-04-20 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 RCV001082127 SCV000555658 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170861 SCV001333482 benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154969 SCV001372359 likely benign not specified 2020-06-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000154969 SCV001742352 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154969 SCV001923999 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154969 SCV001958648 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118747 SCV001975462 likely benign not provided no assertion criteria provided clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino RCV002224961 SCV002503604 likely pathogenic Toe walking no assertion criteria provided clinical testing

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