ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) (rs532102837)

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Total submissions: 12
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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 RCV000172361 SCV000055025 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000248449 SCV000318229 uncertain significance Cardiovascular phenotype 2013-01-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371985 SCV000423589 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279780 SCV000423590 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337132 SCV000423591 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394687 SCV000423592 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282781 SCV000423593 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340184 SCV000423594 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000172361 SCV000555484 benign not provided 2018-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000603350 SCV000723299 benign not specified 2017-12-27 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000603350 SCV000857828 benign not specified 2017-11-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770054 SCV000901480 likely benign Cardiomyopathy 2017-09-07 criteria provided, single submitter clinical testing

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