Submissions for variant NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)

gnomAD frequency: 0.00093  dbSNP: rs273585618

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000371799	SCV000399301	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000490000	SCV000577767	likely benign	not provided	2020-01-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29111844, 24895405)
CeGaT Center for Human Genetics Tuebingen	RCV000490000	SCV000780542	likely benign	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV000490000	SCV001732592	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426655	SCV002743461	likely benign	Cardiovascular phenotype	2021-11-24	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	RCV003952544	SCV004770243	likely benign	ZNF469-related disorder	2019-12-06	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).
Willoughby Group, Queen's University Belfast	RCV000114778	SCV000148673	pathogenic	Keratoconus 1		no assertion criteria provided	not provided	Converted during submission to Pathogenic.