Submissions for variant NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)

gnomAD frequency: 0.00558  dbSNP: rs79439293

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864411	SCV001005208	benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000864411	SCV001824101	likely benign	not provided	2021-01-30	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000864411	SCV002011630	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000864411	SCV004162202	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	AUTS2: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000864411	SCV001744220	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000864411	SCV001966477	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918364	SCV004731759	benign	AUTS2-related disorder	2020-11-10	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).