ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484588 SCV004229147 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2023-12-08 criteria provided, single submitter clinical testing

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