ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.1068+18G>A

gnomAD frequency: 0.00007  dbSNP: rs369137482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432419 SCV000513517 likely benign not provided 2017-06-02 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000432419 SCV001713708 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061425 SCV002332727 likely benign RASopathy 2023-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509382 SCV002819625 benign not specified 2022-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000432419 SCV003800528 likely benign not provided 2022-05-10 criteria provided, single submitter clinical testing

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