ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) (rs200264407)

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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 RCV000241936 SCV000320592 likely benign Cardiovascular phenotype 2019-07-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000439130 SCV000525585 likely benign not specified 2018-01-16 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.
Invitae RCV000524710 SCV000641983 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186665 SCV001353204 likely benign Cardiomyopathy 2018-11-26 criteria provided, single submitter clinical testing

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