ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.*1006del

gnomAD frequency: 0.05739  dbSNP: rs146940557
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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 RCV000349825 SCV000376368 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387928 SCV000376369 likely benign Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296025 SCV000376370 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813457 SCV002060588 likely benign Noonan syndrome and Noonan-related syndrome 2016-12-20 criteria provided, single submitter clinical testing

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