ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1171-11T>C (rs183414126)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038153 SCV000061819 likely benign not specified 2015-06-19 criteria provided, single submitter clinical testing c.1171-11T>C in intron 4 of PKP2: This variant is not expected to have clinical significance because it has been identified in 0.4% (67/16410) of South Asian ch romosomes and 0.3% (229/65858) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183414126).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608573 SCV000743457 benign Arrhythmogenic right ventricular dysplasia 9 2017-05-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608573 SCV000744704 benign Arrhythmogenic right ventricular dysplasia 9 2015-09-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776073 SCV000910779 likely benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000608573 SCV001266835 likely benign Arrhythmogenic right ventricular dysplasia 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000608573 SCV001477603 benign Arrhythmogenic right ventricular dysplasia 9 2020-07-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608573 SCV000733164 likely benign Arrhythmogenic right ventricular dysplasia 9 no assertion criteria provided clinical testing

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