ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.757dup (p.Ala253fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289120 SCV002581590 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-04-12 criteria provided, single submitter clinical testing

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