ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)

dbSNP: rs538005366
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415240 SCV000492791 uncertain significance Autism; Global developmental delay 2015-03-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000435181 SCV000510860 likely benign not provided 2016-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000435181 SCV001012136 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198470 SCV001369406 uncertain significance Autism spectrum disorder due to AUTS2 deficiency 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
GeneDx RCV000435181 SCV001916756 benign not provided 2019-10-11 criteria provided, single submitter clinical testing

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