ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)

dbSNP: rs1135401787
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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 Goettingen RCV000496536 SCV000586740 likely pathogenic Cardiofaciocutaneous syndrome 4 2017-08-03 no assertion criteria provided clinical testing CFC syndrome

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