Submissions for variant NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)

gnomAD frequency: 0.00638  dbSNP: rs77617474

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001527770	SCV001738902	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821850	SCV002067320	benign	not specified	2020-05-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260170	SCV002539567	benign	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002260170	SCV002798096	likely benign	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2022-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001527770	SCV002822453	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ASXL3: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003921184	SCV004730623	benign	ASXL3-related disorder	2021-04-13	criteria provided, single submitter	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).