Submissions for variant NM_004260.4(RECQL4):c.3236+13C>T

gnomAD frequency: 0.41215  dbSNP: rs4244610

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080894	SCV000112796	benign	not specified	2014-05-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080894	SCV000310035	benign	not specified		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795121	SCV002033496	benign	Baller-Gerold syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795120	SCV002033497	benign	Rapadilino syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795122	SCV002033498	benign	Rothmund-Thomson syndrome type 2	2021-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001795121	SCV002402960	benign	Baller-Gerold syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001723659	SCV005270311	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000080894	SCV001743533	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723659	SCV001959296	likely benign	not provided		no assertion criteria provided	clinical testing