ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.873G>A (p.Thr291=) (rs760706353)

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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 RCV000250340 SCV000319091 likely benign Cardiovascular phenotype 2017-08-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000863823 SCV001004543 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV001183767 SCV001349588 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV001466583 SCV001670587 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-06-12 criteria provided, single submitter clinical testing

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