ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)

dbSNP: rs121908596
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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 RCV001724794 SCV001950132 pathogenic Cardiofaciocutaneous syndrome 3 2021-08-17 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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