ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) (rs371563258)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246952 SCV000319986 likely benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769942 SCV000901368 likely benign Cardiomyopathy 2016-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725711 SCV000701092 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000592268 SCV000714717 likely benign not specified 2017-06-05 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 RCV000231538 SCV000286829 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-01-01 criteria provided, single submitter clinical testing

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