ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) (rs773954315)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427700 SCV000532568 likely benign not specified 2016-10-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000617667 SCV000736207 likely benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000869939 SCV001011401 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV001188437 SCV001355496 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
Invitae RCV001475439 SCV001679629 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-08-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000869939 SCV001739978 likely benign not provided no assertion criteria provided clinical testing

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