ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.14+11C>A

gnomAD frequency: 0.00004  dbSNP: rs1486505121
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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 RCV002129539 SCV002404397 likely benign RASopathy 2024-04-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494266 SCV002799900 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-09-13 criteria provided, single submitter clinical testing

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