ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val)

dbSNP: rs112661514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332985 SCV001525459 uncertain significance Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute of Immunology and Genetics Kaiserslautern RCV001332985 SCV005043026 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2024-04-25 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PP3, PS2; Variant was found in heterozygous state

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