ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs397516711
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Total submissions: 5
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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 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)
Eurofins Ntd Llc (ga) RCV000724500 SCV000228975 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179086 SCV001343676 likely benign Cardiomyopathy 2018-10-23 criteria provided, single submitter clinical testing
Invitae RCV001457759 SCV001661565 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444479 SCV002680689 likely benign Cardiovascular phenotype 2018-04-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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