Submissions for variant NM_002834.5(PTPN11):c.616T>C (p.Leu206=)

gnomAD frequency: 0.00006  dbSNP: rs78376169

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001455888	SCV001659657	likely benign	RASopathy	2021-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000867523	SCV001795155	likely benign	not provided	2020-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002352544	SCV002654539	likely benign	Cardiovascular phenotype	2019-08-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002501269	SCV002810828	likely benign	Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1	2021-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538257	SCV004748147	likely benign	PTPN11-related disorder	2019-06-07	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000867523	SCV001929615	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000867523	SCV001956327	likely benign	not provided		no assertion criteria provided	clinical testing