Submissions for variant NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)

gnomAD frequency: 0.00769  dbSNP: rs75288466

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000415852	SCV000493301	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS1, BS2
GeneDx	RCV000428615	SCV000528870	benign	not specified	2017-12-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000428615	SCV000703607	likely benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Invitae	RCV000415852	SCV001723657	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278650	SCV002565229	benign	Ehlers-Danlos syndrome	2022-04-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379280	SCV002694764	benign	Cardiovascular phenotype	2019-01-09	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.
Fulgent Genetics, Fulgent Genetics	RCV002502447	SCV002795986	benign	Brittle cornea syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing