Submissions for variant NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=)

gnomAD frequency: 0.00085  dbSNP: rs138585463

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316112	SCV000847667	likely benign	Inborn genetic diseases	2016-08-24	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.
Invitae	RCV000863665	SCV001004362	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001335733	SCV001528961	uncertain significance	Developmental and epileptic encephalopathy, 18	2018-01-22	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000863665	SCV001810949	likely benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000863665	SCV004123707	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SZT2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003907989	SCV004723260	likely benign	SZT2-related condition	2019-06-20	criteria provided, single submitter	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).