ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.306C>A (p.Ser102=) (rs376613662)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216533 SCV000270736 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Ser102Ser in exon 2 of PKP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (22/16510) of South Asian chromosomes including 2 homozygotes and 37/66714 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; db SNP rs376613662).
Illumina Clinical Services Laboratory,Illumina RCV000400125 SCV000378473 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000216533 SCV000515353 likely benign not specified 2017-06-08 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 RCV000640040 SCV000761628 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-08-17 criteria provided, single submitter clinical testing
Color RCV000777733 SCV000913691 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing

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