ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813585 SCV002060650 likely pathogenic Noonan syndrome and Noonan-related syndrome 2017-04-24 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261023 SCV001438420 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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