Submissions for variant NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)

gnomAD frequency: 0.00417  dbSNP: rs199760004

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175662	SCV000227195	benign	not specified	2015-06-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443976	SCV000511193	likely benign	not provided	2017-02-16	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000443976	SCV000532980	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000443976	SCV002453996	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243850	SCV002514343	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415753	SCV002720102	benign	Cardiovascular phenotype	2020-10-07	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.
CeGaT Center for Human Genetics Tuebingen	RCV000443976	SCV003917852	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000443976	SCV005217592	likely benign	not provided		criteria provided, single submitter	not provided