ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)

gnomAD frequency: 0.00025  dbSNP: rs377720622
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037598 SCV000061258 likely benign not specified 2011-09-07 criteria provided, single submitter clinical testing Pro2Pro in exon 1 of MAP2K1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located ne ar a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp RCV000525445 SCV000659029 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001636615 SCV001852517 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037598 SCV001983559 benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813304 SCV002060561 likely benign Noonan syndrome and Noonan-related syndrome 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371810 SCV002668100 likely benign Cardiovascular phenotype 2022-08-10 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 RCV001636615 SCV004132708 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing MAP2K1: BP4, BP7

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