Submissions for variant NM_004260.4(RECQL4):c.3393+8C>T

gnomAD frequency: 0.37589  dbSNP: rs756627

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080895	SCV000112797	benign	not specified	2014-05-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080895	SCV000310038	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520355	SCV001729428	benign	Baller-Gerold syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001610369	SCV001837909	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520355	SCV002033492	benign	Baller-Gerold syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795123	SCV002033493	benign	Rapadilino syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795124	SCV002033494	benign	Rothmund-Thomson syndrome type 2	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610369	SCV005270309	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000080895	SCV001743772	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080895	SCV001952567	benign	not specified		no assertion criteria provided	clinical testing