ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)

dbSNP: rs2037399601
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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 RCV001172334 SCV001335364 likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2019-02-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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