Submissions for variant NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)

gnomAD frequency: 0.00197  dbSNP: rs138762270

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000713748	SCV000844377	uncertain significance	not provided	2017-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312256	SCV000846311	benign	Inborn genetic diseases	2017-06-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713748	SCV001001778	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713748	SCV001500812	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	SZT2: BP4, BS2
Baylor Genetics	RCV001335728	SCV001528956	uncertain significance	Developmental and epileptic encephalopathy, 18	2018-01-13	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000713748	SCV001792800	likely benign	not provided	2020-08-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713748	SCV001929953	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713748	SCV001976213	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918152	SCV004733647	likely benign	SZT2-related disorder	2020-07-28	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).