Submissions for variant NM_004260.4(RECQL4):c.1258+6A>T

gnomAD frequency: 0.02229  dbSNP: rs34437789

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249974	SCV000310026	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464280	SCV000557674	benign	Baller-Gerold syndrome	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001711560	SCV001941250	benign	not provided	2019-09-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27247962)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316408	SCV004017273	benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711560	SCV005270337	benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235234	SCV005881225	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249974	SCV001809731	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249974	SCV001957815	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001711560	SCV002035510	likely benign	not provided		no assertion criteria provided	clinical testing