ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.3332-1_3332del

dbSNP: rs2152351137
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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 RCV002086749 SCV002320797 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-01-01 criteria provided, single submitter clinical testing

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