ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.953A>C (p.His318Pro) (rs181098323)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617731 SCV000736221 likely benign Cardiovascular phenotype 2019-06-18 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV000415624 SCV001003031 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000415624 SCV001269384 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-10-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Color RCV001175621 SCV001339290 likely benign Cardiomyopathy 2020-02-18 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415624 SCV000493780 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-03-30 no assertion criteria provided clinical testing

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