Submissions for variant NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)

gnomAD frequency: 0.00070  dbSNP: rs200070902

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001531245	SCV000714112	likely benign	not provided	2020-09-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001531245	SCV001746263	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ZNF469: BP4
Invitae	RCV001531245	SCV002386312	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279386	SCV002565358	likely benign	Ehlers-Danlos syndrome	2021-02-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350440	SCV002646406	uncertain significance	Cardiovascular phenotype	2021-08-17	criteria provided, single submitter	clinical testing	The c.4922C>T (p.A1641V) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 4922, causing the alanine (A) at amino acid position 1641 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000603553	SCV001808625	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001531245	SCV001968546	likely benign	not provided		no assertion criteria provided	clinical testing