ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.221A>G (p.His74Arg) (rs201855245)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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 cardiomyopathy, type 10 2020-12-03 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 RCV000215671 SCV000723708 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
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

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