ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) (rs72650006)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040096 SCV000051632 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040096 SCV000063787 benign not specified 2012-02-10 criteria provided, single submitter clinical testing Thr8694Ser in exon 102 of TTN: This variant is classified as benign based on its high frequency in the general population (dbSNP rs72650006; NHLBI Exome Sequenc ing Project, http://evs.gs.washington.edu/EVS).
Genetic Services Laboratory, University of Chicago RCV000040096 SCV000153236 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000040096 SCV000169209 benign not specified 2012-10-22 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 RCV000204308 SCV000261773 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040096 SCV000315458 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252332 SCV000318553 benign Cardiovascular phenotype 2013-03-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395854 SCV000423824 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308804 SCV000423825 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365787 SCV000423826 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395851 SCV000423827 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307512 SCV000423828 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359919 SCV000423829 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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