ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1070C>T (p.Thr357Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006810 SCV005632296 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-04-10 criteria provided, single submitter clinical testing

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