ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.699C>T (p.Tyr233=)

gnomAD frequency: 0.00001  dbSNP: rs1044588100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780393 SCV000917608 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536864 SCV001087812 likely benign RASopathy 2022-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027317 SCV005029130 likely benign Cardiovascular phenotype 2023-12-16 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.

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