ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.84C>G (p.Val28=) (rs397516711)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037315 SCV000060972 likely benign not specified 2012-08-14 criteria provided, single submitter clinical testing Val28Val in exon 3 of DSG2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Val28Val in exon 3 of DSG2 (allele frequency = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724500 SCV000228975 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV001179086 SCV001343676 likely benign Cardiomyopathy 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV001457759 SCV001661565 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-25 criteria provided, single submitter clinical testing

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