Submissions for variant NM_030662.4(MAP2K2):c.456C>T (p.Gly152=)

gnomAD frequency: 0.00004  dbSNP: rs143106439

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000611453	SCV000722894	likely benign	not specified	2017-09-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001054943	SCV001219302	likely benign	RASopathy	2023-11-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000611453	SCV003923213	benign	not specified	2023-03-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003302944	SCV003998762	likely benign	Cardiovascular phenotype	2023-03-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV003884662	SCV004702624	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MAP2K2: BP4, BP7