ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) (rs1057519806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995803 SCV001150156 pathogenic Cardiofaciocutaneous syndrome 4 2019-06-11 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000429584 SCV000505224 likely pathogenic Cutaneous melanoma 2014-12-26 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824947 SCV000965982 likely pathogenic Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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