ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) (rs112592855)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038208 SCV000054791 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038208 SCV000061876 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Thr798Ala in exon 12 of PKP2: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (181/24012) of African chromos omes, including 1 homozygote, by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org/; dbSNP rs112592855).
GeneDx RCV000038208 SCV000236189 benign not specified 2015-05-06 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 RCV000226998 SCV000288605 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622171 SCV000735591 benign Cardiovascular phenotype 2018-03-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769387 SCV000900779 likely benign Cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845408 SCV000987474 benign Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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