ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.2218del (p.His740fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287633 SCV002577741 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PP4

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