Submissions for variant NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)

gnomAD frequency: 0.00113  dbSNP: rs139653501

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579369	SCV000574194	benign	not provided	2019-01-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28484309)
Invitae	RCV001579369	SCV002380095	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244955	SCV002514264	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279249	SCV002565311	likely benign	Ehlers-Danlos syndrome	2020-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431419	SCV002743760	benign	Cardiovascular phenotype	2019-02-25	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579369	SCV001806976	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726193	SCV001966744	benign	not specified		no assertion criteria provided	clinical testing