ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.990A>C (p.Thr330=) (rs369739920)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033521 SCV000057426 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220386 SCV000270777 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing p.Thr330Thr in exon 9 of PTPN11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/11546 Latino an d 2/8650 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs369739920).
PreventionGenetics,PreventionGenetics RCV000220386 SCV000309218 likely benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000220386 SCV000698088 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV000857548 SCV000776919 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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