Submissions for variant NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)

gnomAD frequency: 0.00951  dbSNP: rs141776185

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374883	SCV000399427	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001672529	SCV001887586	benign	not provided	2018-09-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27040692)
Invitae	RCV001672529	SCV002405500	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000374883	SCV002514329	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278475	SCV002565436	benign	Ehlers-Danlos syndrome	2021-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374548	SCV002687551	likely benign	Cardiovascular phenotype	2019-03-08	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	RCV001729532	SCV001977704	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729532	SCV001980116	benign	not specified		no assertion criteria provided	clinical testing