ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) (rs113391261)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040003 SCV000063694 benign not specified 2012-03-02 criteria provided, single submitter clinical testing Gly6913Gly in exon 81 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 1.6% (53/3246) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs113391261).
GeneDx RCV000040003 SCV000169634 benign not specified 2014-03-28 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.
Ambry Genetics RCV000253391 SCV000318290 benign Cardiovascular phenotype 2013-01-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326295 SCV000424166 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387902 SCV000424167 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277762 SCV000424168 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330427 SCV000424169 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387214 SCV000424170 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281144 SCV000424171 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474582 SCV000555299 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040003 SCV000616030 benign not specified 2016-08-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769056 SCV000900429 benign Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing

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