ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.264G>A (p.Lys88=)

gnomAD frequency: 0.00006  dbSNP: rs7494832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001393513 SCV001595179 likely benign RASopathy 2022-09-13 criteria provided, single submitter clinical testing
GeneDx RCV001692375 SCV001908923 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456612 SCV002739419 likely benign Cardiovascular phenotype 2022-07-14 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 RCV003399214 SCV004122914 likely benign not specified 2023-10-01 criteria provided, single submitter clinical testing

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