Submissions for variant NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu)

gnomAD frequency: 0.00093  dbSNP: rs139027171

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000488231	SCV000574758	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SZT2: BP4, BS2
Ambry Genetics	RCV002313745	SCV000849364	benign	Inborn genetic diseases	2024-02-29	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	RCV000488231	SCV001000891	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000488231	SCV001770602	likely benign	not provided	2020-12-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000488231	SCV001932609	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488231	SCV001964215	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905033	SCV004724439	likely benign	SZT2-related disorder	2022-08-25	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).