ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) (rs72648946)

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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 RCV000039905 SCV000063596 benign not specified 2012-03-02 criteria provided, single submitter clinical testing Ala4753Thr in exon 58 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 2.0% (65/3204) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs72648946).
GeneDx RCV000039905 SCV000236737 benign not specified 2014-07-09 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 RCV000234395 SCV000286469 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251379 SCV000318470 benign Cardiovascular phenotype 2013-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321569 SCV000424538 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355392 SCV000424539 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262802 SCV000424540 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315602 SCV000424541 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372675 SCV000424542 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294602 SCV000424543 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770086 SCV000901512 benign Cardiomyopathy 2017-08-15 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000770086 SCV000995644 benign Cardiomyopathy 2019-04-17 criteria provided, single submitter clinical testing

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