Submissions for variant NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)

gnomAD frequency: 0.00003  dbSNP: rs529064753

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000604668	SCV000699628	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001706681	SCV000715255	likely benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001486600	SCV001691060	likely benign	RASopathy	2023-11-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813513	SCV002060802	uncertain significance	Noonan syndrome and Noonan-related syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160002	SCV003913135	likely benign	Cardiovascular phenotype	2022-11-19	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	RCV001706681	SCV005050717	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	MAP2K2: BP4, BP7