ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.111G>C (p.Val37=) (rs373923523)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619184 SCV000735584 likely benign Cardiovascular phenotype 2016-11-03 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 RCV000769151 SCV000900525 uncertain significance Cardiomyopathy 2016-07-27 criteria provided, single submitter clinical testing
Invitae RCV000867668 SCV001008920 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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