ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1317T>C (p.Ser439=) (rs727505064)

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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 RCV000156499 SCV000206218 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing Ser439Ser in exon 10 of DSG2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Invitae RCV000979327 SCV001127268 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Invitae RCV001461370 SCV001665270 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-11-22 criteria provided, single submitter clinical testing

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