Submissions for variant NM_005235.3(ERBB4):c.882A>G (p.Pro294=)

gnomAD frequency: 0.00403  dbSNP: rs77309171

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881984	SCV001025192	likely benign	not provided	2025-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000881984	SCV004151309	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ERBB4: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000881984	SCV005258289	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580120	SCV001809755	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000881984	SCV001964716	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930559	SCV004740673	benign	ERBB4-related disorder	2022-12-22	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).