Submissions for variant NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)

gnomAD frequency: 0.00427  dbSNP: rs144637135

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232906	SCV000288166	benign	Baller-Gerold syndrome	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001546143	SCV001765611	likely benign	not provided	2020-07-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001546143	SCV005222974	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235019	SCV005881180	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
ITMI	RCV000121967	SCV000086174	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001546143	SCV001799006	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121967	SCV001808857	benign	not specified		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121967	SCV003839958	benign	not specified	2022-08-29	no assertion criteria provided	clinical testing