ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter)

dbSNP: rs757821091
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071036 SCV002320875 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2022-01-01 criteria provided, single submitter clinical testing

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