ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)

dbSNP: rs727503380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151687 SCV000199996 likely pathogenic Noonan syndrome 2019-02-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589756 SCV000698067 likely pathogenic Noonan syndrome 3 2016-02-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004562307 SCV005049804 pathogenic Metachondromatosis 2024-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV004562306 SCV005049852 pathogenic Noonan syndrome 1 2024-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV004562308 SCV005049911 pathogenic LEOPARD syndrome 1 2024-02-24 criteria provided, single submitter clinical testing

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