ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) (rs727505101)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156550 SCV000206269 likely benign not specified 2014-05-06 criteria provided, single submitter clinical testing Gly17411Gly in exon 252 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV001080269 SCV000643452 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727465 SCV000708772 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620764 SCV000735393 likely benign Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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