ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2127T>C (p.His709=) (rs876657457)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219049 SCV000270164 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.His709His in exon 14 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV000928059 SCV001073661 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Invitae RCV001483416 SCV001687807 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-06-11 criteria provided, single submitter clinical testing

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