ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.*1157ATG[17]

dbSNP: rs80269561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360287 SCV000376377 uncertain significance Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390604 SCV000376378 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297210 SCV000376379 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391084 SCV004131977 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PTPN11: BS1

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