ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.525+12G>C (rs41304351)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523314 SCV000616411 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.525+12G>C variant in the PTPN11 gene is 1.4% for European (Non-Finnish) chromosomes by the Exome Aggregation Consortium (969/66644 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). Additional case level data available: SCV000057399.8; SCV000061311.5; SCV000248623.2; SCV000206755.1; SCV000207666.1.
GeneDx RCV000680298 SCV000057399 benign not provided 2016-06-03 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037649 SCV000061311 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037649 SCV000248623 benign not specified 2016-10-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037649 SCV000309208 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157027 SCV000206755 benign Noonan syndrome 2014-05-29 no assertion criteria provided clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037649 SCV000207666 benign not specified 2015-01-15 no assertion criteria provided clinical testing

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