ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.273A>G (p.Gly91=)

gnomAD frequency: 0.00004  dbSNP: rs376944801
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245486 SCV000319044 likely benign Cardiovascular phenotype 2016-06-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000459609 SCV000535058 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086707 SCV000561378 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770543 SCV000901990 likely benign Cardiomyopathy 2015-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000459609 SCV001151509 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DSG2: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV000770543 SCV001353516 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999036 SCV004819430 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000459609 SCV001742446 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000421353 SCV001918266 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000459609 SCV001975042 likely benign not provided no assertion criteria provided clinical testing

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