ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) (rs377180286)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724238 SCV000228184 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000724238 SCV000515150 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV001085373 SCV000555230 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618923 SCV000737341 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769995 SCV000901421 likely benign Cardiomyopathy 2016-06-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724238 SCV001744447 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000724238 SCV001918069 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724238 SCV001966266 likely benign not provided no assertion criteria provided clinical testing

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