ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3377ACC[10] (p.His1132_His1133dup)

dbSNP: rs538005366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513821 SCV000610155 benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513821 SCV001011985 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000513821 SCV001869635 benign not provided 2020-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915432 SCV004736212 benign AUTS2-related disorder 2019-03-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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