Submissions for variant NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys)

gnomAD frequency: 0.00016  dbSNP: rs147895689

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001576990	SCV001804292	likely benign	not provided	2020-12-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23952244)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001576990	SCV002470584	benign	not provided	2024-12-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260208	SCV002539520	benign	Bohring-Opitz syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002568494	SCV003732986	likely benign	Inborn genetic diseases	2024-10-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001576990	SCV004152578	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ASXL1: BP4, BS1