ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)

gnomAD frequency: 0.00001  dbSNP: rs1325353647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002180444 SCV002343606 likely benign RASopathy 2022-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498174 SCV002810631 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-08-03 criteria provided, single submitter clinical testing

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