ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2211C>T (p.Gly737=)

gnomAD frequency: 0.00288  dbSNP: rs74578148
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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 RCV000037282 SCV000060939 benign not specified 2012-02-09 criteria provided, single submitter clinical testing 27/3346 AA chromosomes (0.8%) - ESP/NHLBI
GeneDx RCV000037282 SCV000168242 benign not specified 2013-05-29 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.
Invitae RCV000227265 SCV000287234 benign Arrhythmogenic right ventricular dysplasia 10 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776292 SCV000911585 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000776292 SCV004240501 benign Cardiomyopathy 2023-06-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528980 SCV001741658 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037282 SCV001923797 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528980 SCV001931266 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528980 SCV001968237 likely benign not provided no assertion criteria provided clinical testing

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