ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.912C>T (p.Pro304=)

gnomAD frequency: 0.00001  dbSNP: rs1006127521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799946 SCV002043982 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002074146 SCV002340001 likely benign RASopathy 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370325 SCV002688599 likely benign Cardiovascular phenotype 2019-07-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994330 SCV004813276 likely benign not specified 2024-02-09 criteria provided, single submitter clinical testing

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