ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1284T>C (p.Tyr428=) (rs202095254)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150538 SCV000197755 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr428Tyr in Exon 10 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/2870 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;).
Invitae RCV000537673 SCV000641961 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186895 SCV001353504 likely benign Cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing

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