Submissions for variant NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)

gnomAD frequency: 0.00106  dbSNP: rs191234581

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000761619	SCV000532656	likely benign	not provided	2021-06-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000761619	SCV000891788	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BP7
Invitae	RCV000761619	SCV002463525	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244920	SCV002514341	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279208	SCV002565237	likely benign	Ehlers-Danlos syndrome	2021-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402198	SCV002713653	benign	Cardiovascular phenotype	2019-03-21	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.
PreventionGenetics, part of Exact Sciences	RCV003912761	SCV004736987	likely benign	ZNF469-related disorder	2019-11-19	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	RCV000761619	SCV001808544	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000761619	SCV001973208	likely benign	not provided		no assertion criteria provided	clinical testing