ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) (rs145204073)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154988 SCV000169602 benign not specified 2014-05-06 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154988 SCV000204670 likely benign not specified 2013-09-24 criteria provided, single submitter clinical testing Ile5077Val in exon 62 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (23/3654) of African American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S; dbSNP rs145204073). Ile5077Val in exon 62 of TTN (rs145204073; allele freque ncy = 0.6%, 23/3654) **
Illumina Clinical Services Laboratory,Illumina RCV000306728 SCV000424472 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361383 SCV000424473 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266819 SCV000424474 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303282 SCV000424475 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357808 SCV000424476 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263263 SCV000424477 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472153 SCV000555353 benign not provided 2019-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154988 SCV000701105 likely benign not specified 2017-01-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769066 SCV000900439 likely benign Cardiomyopathy 2016-03-02 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769066 SCV000995638 benign Cardiomyopathy 2019-04-17 criteria provided, single submitter clinical testing

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