ClinVar Miner

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

dbSNP: rs727505064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001461370 SCV001665270 likely benign Arrhythmogenic right ventricular dysplasia 10 2021-06-15 criteria provided, single submitter clinical testing

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