ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.3766-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797574 SCV005418534 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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