ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.165C>T (p.Pro55=) (rs780650457)

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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 RCV000618723 SCV000736617 likely benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001185525 SCV001351762 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001396559 SCV001598291 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-07-21 criteria provided, single submitter clinical testing

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