Submissions for variant NM_002834.5(PTPN11):c.486C>T (p.Asp162=)

gnomAD frequency: 0.00009  dbSNP: rs397507522

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001711362	SCV000057398	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244264	SCV000320303	likely benign	Cardiovascular phenotype	2015-10-22	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.
Invitae	RCV000033493	SCV000560641	likely benign	RASopathy	2024-01-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002265575	SCV002548253	benign	not specified	2022-05-02	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315535	SCV004017221	benign	Juvenile myelomonocytic leukemia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711362	SCV004131963	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	PTPN11: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004532488	SCV004732908	likely benign	PTPN11-related disorder	2020-08-24	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).