ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)

gnomAD frequency: 0.00002  dbSNP: rs766297596
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802012 SCV000941818 likely benign RASopathy 2023-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501074 SCV002806781 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-12-30 criteria provided, single submitter clinical testing

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