ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)

dbSNP: rs1747667518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV002262173 SCV002543777 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002262173 SCV004175328 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2023-03-28 criteria provided, single submitter clinical testing

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