Submissions for variant NM_004260.4(RECQL4):c.2463+6C>T

gnomAD frequency: 0.00229  dbSNP: rs35029361

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000225975	SCV000288224	benign	Baller-Gerold syndrome	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001582779	SCV001820609	likely benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257550	SCV002527875	likely benign	Hereditary cancer-predisposing syndrome	2021-01-31	criteria provided, single submitter	curation
Breakthrough Genomics, Breakthrough Genomics	RCV001582779	SCV005222952	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235173	SCV005881193	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001582779	SCV001930691	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726065	SCV001964918	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541411	SCV004772568	benign	RECQL4-related disorder	2019-07-09	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).