ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) (rs200463088)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245900 SCV000320089 likely benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040470 SCV000337967 likely benign not specified 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000040470 SCV000515157 benign not specified 2015-08-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000316505 SCV000422377 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373573 SCV000422378 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295521 SCV000422379 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334167 SCV000422380 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386365 SCV000422381 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294525 SCV000422382 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475891 SCV000555036 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040470 SCV000064161 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing Asp18725Asp in exon 256 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/6651 European Amer ican chromosomes and 0.2% (7/3120) of African American chromosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washington.edu/EVS ). Asp18725Asp in exon 256 of TTN (allele frequency = 0.2%, 7/3120) **

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