ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)

dbSNP: rs1599307313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000824944 SCV000965979 likely pathogenic Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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