Submissions for variant NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)

gnomAD frequency: 0.00320  dbSNP: rs572299080

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432553	SCV000532165	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	RCV001171784	SCV001334638	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BP7
Invitae	RCV001171784	SCV002401488	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244918	SCV002514302	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279206	SCV002565387	benign	Ehlers-Danlos syndrome	2022-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365553	SCV002658542	likely benign	Cardiovascular phenotype	2019-03-22	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.
PreventionGenetics, part of Exact Sciences	RCV003932669	SCV004751426	likely benign	ZNF469-related disorder	2020-09-18	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001171784	SCV001807804	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001171784	SCV001968336	likely benign	not provided		no assertion criteria provided	clinical testing