ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) (rs3813243)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251680 SCV000318075 benign Cardiovascular phenotype 2013-01-09 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040617 SCV000051682 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040617 SCV000114436 benign not specified 2013-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000040617 SCV000169364 benign not specified 2012-10-31 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 RCV000040617 SCV000153344 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268137 SCV000421729 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323200 SCV000421730 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373158 SCV000421731 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260021 SCV000421732 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319913 SCV000421733 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374452 SCV000421734 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460556 SCV000555014 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040617 SCV000064308 benign not specified 2012-07-24 criteria provided, single submitter clinical testing Benign based on high MAF in EA (2%; T=167/C=8095) and AA (6.3%; T=241/C=3527) - NHLBI Exome Variant Server (http://evs.gs.washington.edu/EVS/)
PreventionGenetics RCV000040617 SCV000315555 benign not specified criteria provided, single submitter clinical testing

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