ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.357G>A (p.Leu119=)

gnomAD frequency: 0.00001  dbSNP: rs1377039329
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Total submissions: 2
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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 RCV000780394 SCV000917610 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768453 SCV004612785 likely benign RASopathy 2023-06-06 criteria provided, single submitter clinical testing

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