ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) (rs6725673)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248168 SCV000317917 benign Cardiovascular phenotype 2012-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713959 SCV000844610 benign not provided 2015-08-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769845 SCV000901271 benign Cardiomyopathy 2015-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000040975 SCV000169486 benign not specified 2014-03-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000371991 SCV000419905 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282234 SCV000419906 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337288 SCV000419907 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405721 SCV000419908 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284294 SCV000419909 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341604 SCV000419910 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229528 SCV000286416 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040975 SCV000064666 benign not specified 2012-08-15 criteria provided, single submitter clinical testing 5.0% (181/3614) of Afr Amer chrom from ESP
PreventionGenetics RCV000040975 SCV000315664 benign not specified criteria provided, single submitter clinical testing

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