Submissions for variant NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser)

gnomAD frequency: 0.31563  dbSNP: rs2782643

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247399	SCV000312487	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713739	SCV000844368	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311387	SCV000846182	benign	Inborn genetic diseases	2016-01-08	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.
Invitae	RCV000713739	SCV001717505	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713739	SCV001860548	benign	not provided	2018-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815264	SCV002062175	benign	Developmental and epileptic encephalopathy, 18	2021-07-15	criteria provided, single submitter	clinical testing