Submissions for variant NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His)

gnomAD frequency: 0.01015  dbSNP: rs147797700

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244467	SCV000312492	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080135	SCV000563162	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311389	SCV000847162	benign	Inborn genetic diseases	2016-04-23	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.
Athena Diagnostics	RCV000244467	SCV001476245	benign	not specified	2024-04-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001080135	SCV001886123	benign	not provided	2019-08-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003457663	SCV004180997	benign	Developmental and epileptic encephalopathy, 18	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001080135	SCV005288423	benign	not provided		criteria provided, single submitter	not provided