ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1062C>T (p.Val354=) (rs369233023)

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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 RCV000618749 SCV000737865 likely benign Cardiovascular phenotype 2017-01-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001189732 SCV001357085 likely benign Cardiomyopathy 2019-07-09 criteria provided, single submitter clinical testing
Invitae RCV001392069 SCV001593702 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-27 criteria provided, single submitter clinical testing

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