ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.802-1G>A

dbSNP: rs1672424005
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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 Munich, Klinikum Rechts Der Isar, TU München RCV001254157 SCV001430107 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2020-02-25 criteria provided, single submitter clinical testing

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