ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)

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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 RCV002288330 SCV002579857 likely benign Autism spectrum disorder due to AUTS2 deficiency 2021-12-23 criteria provided, single submitter clinical testing

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