Submissions for variant NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln)

dbSNP: rs151308487

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515732	SCV001723870	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821820	SCV002066074	benign	not specified	2021-06-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001515732	SCV004158393	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	ERCC6L2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001515732	SCV005265063	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005232369	SCV005877135	likely benign	Pancytopenia-developmental delay syndrome	2024-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980541	SCV004786642	benign	ERCC6L2-related disorder	2019-04-30	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).