ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) (rs535800148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519427 SCV000616449 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1028G>A (p.Arg343Gln) variant in the PTPN11 gene is 0.116% (27/16494) of South Asian 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 RCV000159507 SCV000209461 benign not provided 2019-03-19 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 RCV000159507 SCV001060988 likely benign not provided 2018-04-10 criteria provided, single submitter clinical testing

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