ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) (rs72648962)

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Total submissions: 14
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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 RCV000039951 SCV000051699 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039951 SCV000063642 benign not specified 2012-07-06 criteria provided, single submitter clinical testing 4.6% (177/3830) in Afr Amer chrom from ESP
Genetic Services Laboratory, University of Chicago RCV000039951 SCV000153193 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000039951 SCV000169614 benign not specified 2014-03-26 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 RCV000204819 SCV000262113 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039951 SCV000315417 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245217 SCV000318028 benign Cardiovascular phenotype 2012-12-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369529 SCV000424370 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277290 SCV000424371 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316047 SCV000424372 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354529 SCV000424373 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261603 SCV000424374 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319084 SCV000424375 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770083 SCV000901509 benign Cardiomyopathy 2016-03-02 criteria provided, single submitter clinical testing

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