Submissions for variant NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)

gnomAD frequency: 0.00068  dbSNP: rs772817384

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000406466	SCV000399333	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000585365	SCV000534206	likely benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585365	SCV000692876	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585365	SCV002342523	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278454	SCV002565333	uncertain significance	Ehlers-Danlos syndrome	2019-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356433	SCV002622925	likely benign	Cardiovascular phenotype	2022-12-08	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.
PreventionGenetics, part of Exact Sciences	RCV003950091	SCV004761762	likely benign	ZNF469-related disorder	2022-02-02	no assertion criteria provided	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).