ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1324123217
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130351 SCV003818017 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003020 SCV005632280 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-01-02 criteria provided, single submitter clinical testing

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