ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) (rs374896287)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519368 SCV000616452 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1650G>A (p.Ala550=) variant in the PTPN11 gene is 0.067% (13/11548) of Latino chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000127657 SCV000171236 benign not specified 2014-02-01 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.
Ambry Genetics RCV000241744 SCV000318963 likely benign Cardiovascular phenotype 2016-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405570 SCV000376335 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311634 SCV000376336 uncertain significance Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368773 SCV000376337 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859006 SCV000776894 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718773 SCV000849637 likely benign History of neurodevelopmental disorder 2016-04-08 criteria provided, single submitter clinical testing

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