Submissions for variant NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)

dbSNP: rs532620482

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724021	SCV000224315	uncertain significance	not provided	2014-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000724021	SCV000714231	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625422	SCV000745321	benign	Brittle cornea syndrome 1	2017-06-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277328	SCV002565347	likely benign	Ehlers-Danlos syndrome	2022-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336417	SCV002637019	likely benign	Cardiovascular phenotype	2019-11-14	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.
Invitae	RCV000724021	SCV003253894	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625422	SCV000745861	likely benign	Brittle cornea syndrome 1	2016-01-15	no assertion criteria provided	clinical testing