Submissions for variant NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)

gnomAD frequency: 0.00001  dbSNP: rs370059077

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001328460	SCV001519602	likely benign	not specified	2021-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001456317	SCV001660095	likely benign	RASopathy	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002322261	SCV002609994	likely benign	Cardiovascular phenotype	2022-06-09	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	RCV002493717	SCV002801291	likely benign	Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1	2021-08-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003456490	SCV004184272	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PTPN11: BP4, BP7