Submissions for variant NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)

gnomAD frequency: 0.00765  dbSNP: rs74547407

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000403019	SCV000399290	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001712036	SCV000536134	benign	not provided	2018-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV001712036	SCV002187323	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418176	SCV002727113	benign	Cardiovascular phenotype	2019-05-03	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	RCV000418434	SCV001808043	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000418434	SCV001969744	benign	not specified		no assertion criteria provided	clinical testing