ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.5912+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003993712 SCV004812011 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2024-04-10 criteria provided, single submitter clinical testing the variant has not yet been reported to online databases (clinvar, dbSNP, gnomAD). It has a predicted splicing impact. The ACMG criteria are PVS1 and PM2. The variant is classified as likely pathogenic.

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