Submissions for variant NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)

dbSNP: rs531970883

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229225	SCV000288205	benign	Baller-Gerold syndrome	2025-01-26	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001788038	SCV002030223	uncertain significance	Rothmund-Thomson syndrome type 2	2021-01-06	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4	RCV002256067	SCV002527848	likely benign	Hereditary cancer-predisposing syndrome	2022-01-20	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001788038	SCV004017284	likely benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001572798	SCV004236568	uncertain significance	not provided	2023-08-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004955284	SCV005492404	likely benign	Inborn genetic diseases	2024-10-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235014	SCV005881221	benign	Rapadilino syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005394431	SCV006052701	uncertain significance	Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2	2020-09-01	criteria provided, single submitter	research
ITMI	RCV000121935	SCV000086140	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572798	SCV001797726	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572798	SCV001975572	uncertain significance	not provided		no assertion criteria provided	clinical testing