Submissions for variant NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)

dbSNP: rs140056980

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000614542	SCV000715182	likely benign	not specified	2017-11-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000996375	SCV001151061	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000996375	SCV002468439	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279392	SCV002565225	likely benign	Ehlers-Danlos syndrome	2021-09-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384314	SCV002695789	likely benign	Cardiovascular phenotype	2019-11-01	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	RCV000996375	SCV001808014	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000996375	SCV001964850	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953017	SCV004774417	likely benign	ZNF469-related disorder	2020-02-25	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).