ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.853+19C>T

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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 RCV002624098 SCV003513420 likely benign RASopathy 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002969 SCV005632293 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-06-11 criteria provided, single submitter clinical testing

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