Submissions for variant NM_004260.4(RECQL4):c.1704+9C>T

gnomAD frequency: 0.00365  dbSNP: rs35876881

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173798	SCV000224950	likely benign	not specified	2015-06-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988131	SCV000288188	benign	Baller-Gerold syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Mendelics	RCV000988131	SCV001137729	likely benign	Baller-Gerold syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173798	SCV002071475	likely benign	not specified	2021-09-13	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258823	SCV002527828	likely benign	Hereditary cancer-predisposing syndrome	2021-05-02	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316075	SCV004017277	benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235083	SCV005881226	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579867	SCV001808785	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579867	SCV001931455	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579867	SCV001967854	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535189	SCV004742558	likely benign	RECQL4-related disorder	2019-10-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).