ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) (rs1555267825)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000577992 SCV000679878 uncertain significance LEOPARD syndrome 1 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578050 SCV000679879 uncertain significance Metachondromatosis 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578106 SCV000679880 uncertain significance Noonan syndrome 1 2017-08-01 criteria provided, single submitter clinical testing

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