Submissions for variant NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)

gnomAD frequency: 0.00223  dbSNP: rs532857190

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000996374	SCV000530497	likely benign	not provided	2021-03-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000996374	SCV001151060	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000996374	SCV002402206	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244917	SCV002514337	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279200	SCV002565224	benign	Ehlers-Danlos syndrome	2022-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374691	SCV002693185	benign	Cardiovascular phenotype	2019-05-22	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	RCV003922811	SCV004755025	likely benign	ZNF469-related disorder	2022-02-14	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).