Submissions for variant NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu)

gnomAD frequency: 0.00317  dbSNP: rs144663365

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203012	SCV000257816	benign	not specified	2015-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000962983	SCV001110105	likely benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000987304	SCV001136567	likely benign	Primrose syndrome	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000962983	SCV004155367	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	ZBTB20: PP2, BS1, BS2
Ambry Genetics	RCV004020494	SCV004981934	likely benign	Inborn genetic diseases	2024-02-22	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000962983	SCV005264212	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003937762	SCV004747324	benign	ZBTB20-related disorder	2020-03-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).