ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) (rs199629314)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040683 SCV000064374 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Thr24931Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.8% (467/16628) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
GeneDx RCV000040683 SCV000236686 benign not specified 2014-10-06 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 RCV000040683 SCV000249282 likely benign not specified 2015-04-04 criteria provided, single submitter clinical testing
Invitae RCV000231094 SCV000286860 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319388 SCV000421381 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376463 SCV000421382 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284322 SCV000421383 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341413 SCV000421384 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400112 SCV000421385 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287495 SCV000421386 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768903 SCV000900276 benign Cardiomyopathy 2016-01-05 criteria provided, single submitter clinical testing

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