ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.-2A>G

gnomAD frequency: 0.00820  dbSNP: rs77796976
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080030 SCV000111924 benign not specified 2013-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080030 SCV000309166 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002513328 SCV001000694 benign RASopathy 2015-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860593 SCV001157102 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000860593 SCV001939672 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813303 SCV002060557 benign Noonan syndrome and Noonan-related syndrome 2021-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433489 SCV002750755 benign Cardiovascular phenotype 2019-08-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080030 SCV000204151 benign not specified 2009-06-05 no assertion criteria provided clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000080030 SCV000207638 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000080030 SCV001920622 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080030 SCV001957736 benign not specified no assertion criteria provided clinical testing

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