ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)

gnomAD frequency: 0.00001  dbSNP: rs199850535
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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 RCV000552205 SCV000659160 likely benign RASopathy 2024-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588692 SCV000699632 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV001556214 SCV001777750 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420542 SCV002725749 likely benign Cardiovascular phenotype 2020-11-09 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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