Submissions for variant NM_004260.4(RECQL4):c.2460C>T (p.Pro820=)

gnomAD frequency: 0.00098  dbSNP: rs202078917

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229207	SCV000288222	benign	Baller-Gerold syndrome	2025-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001573489	SCV001812874	likely benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818608	SCV002071470	likely benign	not specified	2021-07-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256151	SCV002527874	likely benign	Hereditary cancer-predisposing syndrome	2020-12-01	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001573489	SCV002545653	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	RECQL4: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573489	SCV001799441	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573489	SCV001808598	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573489	SCV001930701	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573489	SCV001970708	likely benign	not provided		no assertion criteria provided	clinical testing