Submissions for variant NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)

gnomAD frequency: 0.09442  dbSNP: rs13334190

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000353120	SCV000399378	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000420171	SCV000524306	benign	not specified	2016-10-10	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420171	SCV001623116	likely benign	not specified	2021-04-30	criteria provided, single submitter	clinical testing
Invitae	RCV002061212	SCV002380715	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000353120	SCV002514301	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356441	SCV002655275	benign	Cardiovascular phenotype	2018-12-04	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.