ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3306A>G (p.Thr1102=)

dbSNP: rs747930194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186196 SCV001352547 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451385 SCV002612136 likely benign Cardiovascular phenotype 2020-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003770080 SCV004687741 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-10-03 criteria provided, single submitter clinical testing

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