ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.221A>G (p.His74Arg)

gnomAD frequency: 0.00089  dbSNP: rs201855245
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Total submissions: 9
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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 RCV000215671 SCV000270166 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.His74Arg in exon 4 of DSG2: This variant is not expected to have clinical sign ificance because it has been identified in 0.3% (10/2898) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS).
Invitae RCV000230994 SCV000287235 likely benign Arrhythmogenic right ventricular dysplasia 10 2021-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248090 SCV000318793 likely benign Cardiovascular phenotype 2019-03-14 criteria provided, single submitter clinical testing Other strong data supporting benign classification
GeneDx RCV001528942 SCV000723708 likely benign not provided 2020-08-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769510 SCV000900905 uncertain significance Cardiomyopathy 2015-09-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769510 SCV001353197 likely benign Cardiomyopathy 2018-11-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528942 SCV001741552 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001528942 SCV001926159 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528942 SCV001928252 likely benign not provided no assertion criteria provided clinical testing

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