Submissions for variant NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=)

gnomAD frequency: 0.00596  dbSNP: rs112461557

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253139	SCV000312497	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000858100	SCV000563146	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311392	SCV000846200	likely benign	Inborn genetic diseases	2016-04-15	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.
Athena Diagnostics	RCV000253139	SCV001476246	benign	not specified	2020-07-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000858100	SCV001893216	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000858100	SCV002496870	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SZT2: BP4, BP7, BS2
Genome-Nilou Lab	RCV003457666	SCV004179081	benign	Developmental and epileptic encephalopathy, 18	2023-04-11	criteria provided, single submitter	clinical testing