Submissions for variant NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)

gnomAD frequency: 0.00390  dbSNP: rs35348691

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121949	SCV000226779	benign	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230976	SCV000288257	benign	Baller-Gerold syndrome	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001596972	SCV001830925	likely benign	not provided	2020-11-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121949	SCV002071464	likely benign	not specified	2021-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001596972	SCV003917639	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	RECQL4: BP4, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315769	SCV004017288	benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001596972	SCV005222946	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121949	SCV000086156	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004542912	SCV004768309	benign	RECQL4-related disorder	2019-03-08	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).