Submissions for variant NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)

gnomAD frequency: 0.00679  dbSNP: rs144534810

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203181	SCV000258203	benign	not specified	2015-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV000949021	SCV001095250	benign	not provided	2018-04-02	criteria provided, single submitter	clinical testing
Mendelics	RCV000990087	SCV001140879	likely benign	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000949021	SCV001759907	benign	not provided	2019-09-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000203181	SCV002067364	benign	not specified	2021-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000949021	SCV002498369	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ASXL3: BS1, BS2
Genome-Nilou Lab	RCV000990087	SCV002539579	benign	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917833	SCV004728176	benign	ASXL3-related condition	2019-05-16	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).