Submissions for variant NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)

gnomAD frequency: 0.00119  dbSNP: rs35346077

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081305	SCV000288269	benign	Baller-Gerold syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121954	SCV000596734	likely benign	not specified	2016-08-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000232588	SCV001155564	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	RECQL4: BP4
GeneDx	RCV000232588	SCV001843675	benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000232588	SCV002009896	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256072	SCV002528332	likely benign	Hereditary cancer-predisposing syndrome	2021-04-04	criteria provided, single submitter	curation
ITMI	RCV000121954	SCV000086161	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000232588	SCV001799439	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232588	SCV001972701	likely benign	not provided		no assertion criteria provided	clinical testing