ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2487T>C (p.Asp829=) (rs142362933)

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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 RCV000038210 SCV000061878 likely benign not specified 2012-05-22 criteria provided, single submitter clinical testing Asp829Asp in exon 12 of PKP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/7020 European Amer ican chromosomes and 2/3738 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142362933). Asp829Asp in exon 12 of PKP2 (rs142362933; allele frequency = 2/3 738) **
Invitae RCV000462231 SCV000557313 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-12-04 criteria provided, single submitter clinical testing
Color RCV000777804 SCV000913799 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing

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