Submissions for variant NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])

dbSNP: rs548804317

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174889	SCV000226282	likely benign	not specified	2015-06-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081460	SCV000288233	benign	Baller-Gerold syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000436226	SCV000511530	likely benign	not provided	2016-12-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000436226	SCV001746982	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	RECQL4: PM4, BS1, BS2
GeneDx	RCV000436226	SCV001765619	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27247962)
Genetic Services Laboratory, University of Chicago	RCV000174889	SCV002071469	likely benign	not specified	2021-09-13	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255139	SCV002527888	likely benign	Hereditary cancer-predisposing syndrome	2021-05-02	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316275	SCV004017275	likely benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235174	SCV005881227	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532898	SCV004739620	benign	RECQL4-related disorder	2019-05-22	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).