ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala)

dbSNP: rs1057519732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002267695 SCV002549870 likely pathogenic Cardiofaciocutaneous syndrome 3 2022-07-15 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PM1, PM2_SUP, PP3

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