ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.*1157ATG[16]

dbSNP: rs80269561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367541 SCV000376383 uncertain significance Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275293 SCV000376384 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332732 SCV000376385 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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