Submissions for variant NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=)

gnomAD frequency: 0.00040  dbSNP: rs140272058

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000904585	SCV001049108	likely benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000904585	SCV001829481	benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818774	SCV002069422	likely benign	not specified	2018-08-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505316	SCV002801088	likely benign	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	2022-01-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002505316	SCV004050295	likely benign	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000904585	SCV004124844	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	GATAD2B: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000904585	SCV005262194	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004541907	SCV004764504	likely benign	GATAD2B-related disorder	2019-10-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).