ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser)

dbSNP: rs1553342109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000677378 SCV000803641 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2018-08-17 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291313 SCV001479786 likely pathogenic Neurodevelopmental disorder no assertion criteria provided research

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