Submissions for variant NM_001365999.1(SZT2):c.3267C>T (p.Val1089=)

gnomAD frequency: 0.00125  dbSNP: rs147008168

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000460633	SCV000563149	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311797	SCV000847198	likely benign	Inborn genetic diseases	2016-06-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000460633	SCV001838048	benign	not provided	2019-12-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003457693	SCV004177305	benign	Developmental and epileptic encephalopathy, 18	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915319	SCV004734794	benign	SZT2-related condition	2019-08-09	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).