ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.643-9C>T

gnomAD frequency: 0.00001  dbSNP: rs750520685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002076260 SCV002430344 likely benign RASopathy 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008471 SCV005632286 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-02-18 criteria provided, single submitter clinical testing

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