Submissions for variant NM_001367624.2(ZNF469):c.11772G>A (p.Thr3924=)

gnomAD frequency: 0.00016  dbSNP: rs771953783

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001549781	SCV001769997	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001549781	SCV002272696	likely benign	not provided	2024-03-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329667	SCV002631508	likely benign	Cardiovascular phenotype	2019-08-02	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	RCV003966180	SCV004786012	likely benign	ZNF469-related disorder	2023-09-08	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).