ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala)

gnomAD frequency: 0.00006  dbSNP: rs199756061
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Total submissions: 5
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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 RCV000431812 SCV000510920 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000431812 SCV001014623 benign not provided 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000431812 SCV001902137 benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252430 SCV001428186 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003957896 SCV004767629 benign AUTS2-related disorder 2021-11-04 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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