ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.854-32A>C (rs187389813)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521102 SCV000616413 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.854-32A>C variant in the PTPN11 gene is 15.2% for Latino chromosomes by the Exome Aggregation Consortium (1824/11514 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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251132 SCV000058299 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251132 SCV000309216 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000680300 SCV000514320 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157019 SCV000206746 benign Noonan syndrome 2014-05-29 no assertion criteria provided clinical testing

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