ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) (rs150864240)

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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 RCV000150545 SCV000197771 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Gly1028Ser in exon 15 of DSG2: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (72/9808) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs150864240).
GeneDx RCV001704079 SCV000233471 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Invitae RCV000234244 SCV000287239 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769520 SCV000900915 likely benign Cardiomyopathy 2016-11-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769520 SCV000913788 benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000150545 SCV001917675 benign not specified no assertion criteria provided clinical testing

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