ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) (rs372611171)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597642 SCV000707862 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619890 SCV000735467 likely benign Cardiovascular phenotype 2016-07-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001078576 SCV001002711 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000597642 SCV001817293 likely benign not provided 2020-04-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000597642 SCV001926977 likely benign not provided no assertion criteria provided clinical testing

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