Submissions for variant NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)

gnomAD frequency: 0.00285  dbSNP: rs61754061

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174207	SCV000225469	benign	not specified	2015-01-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988130	SCV000288201	benign	Baller-Gerold syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000842475	SCV000984497	benign	not provided	2019-07-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000988130	SCV001137728	likely benign	Baller-Gerold syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000842475	SCV002009928	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174207	SCV002071474	benign	not specified	2017-08-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257475	SCV002527843	benign	Hereditary cancer-predisposing syndrome	2020-10-22	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316076	SCV004017327	benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000842475	SCV004159647	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	RECQL4: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000842475	SCV005409558	uncertain significance	not provided	2022-12-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528928	SCV000310031	likely benign	RECQL4-related disorder	2023-11-20	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000842475	SCV001798118	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000842475	SCV001809690	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000842475	SCV001975595	likely benign	not provided		no assertion criteria provided	clinical testing