Submissions for variant NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)

dbSNP: rs568046708

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000585037	SCV000692875	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS2
GeneDx	RCV000585037	SCV000730236	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26964041)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585037	SCV002389569	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002245024	SCV002514272	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279367	SCV002565323	likely benign	Ehlers-Danlos syndrome	2022-06-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002325117	SCV002611022	likely benign	Cardiovascular phenotype	2018-12-30	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000585037	SCV001809693	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727766	SCV001968844	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935582	SCV004748823	likely benign	ZNF469-related disorder	2020-03-16	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).