ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1173C>T (p.Ser391=) (rs763242004)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619784 SCV000737674 likely benign Cardiovascular phenotype 2016-08-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000943315 SCV001089260 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV001187546 SCV001354366 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV001495806 SCV001700495 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-08-10 criteria provided, single submitter clinical testing

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