Submissions for variant NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)

gnomAD frequency: 0.00255  dbSNP: rs375045076

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000487900	SCV000332940	uncertain significance	not provided	2015-07-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335927	SCV000399346	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487900	SCV000575069	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS2
Genetic Services Laboratory, University of Chicago	RCV000285836	SCV000598087	uncertain significance	not specified	2016-07-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000487900	SCV000714107	likely benign	not provided	2021-06-16	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)
Baylor Genetics	RCV000335927	SCV001526473	uncertain significance	Brittle cornea syndrome 1	2018-03-20	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV000487900	SCV001611960	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278267	SCV002565342	likely benign	Ehlers-Danlos syndrome	2022-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328759	SCV002632523	benign	Cardiovascular phenotype	2019-02-20	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	RCV000487900	SCV001807956	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487900	SCV001964609	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939954	SCV004755287	likely benign	ZNF469-related disorder	2020-08-04	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).