Submissions for variant NM_004260.4(RECQL4):c.738C>T (p.Ser246=)

gnomAD frequency: 0.36043  dbSNP: rs4244613

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080898	SCV000112800	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080898	SCV000310043	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080898	SCV000540163	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx	RCV000834332	SCV000976101	benign	not provided	2018-03-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520359	SCV001729432	benign	Baller-Gerold syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520359	SCV002033519	benign	Baller-Gerold syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795125	SCV002033520	benign	Rapadilino syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795126	SCV002033521	benign	Rothmund-Thomson syndrome type 2	2021-11-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001795126	SCV004017271	benign	Rothmund-Thomson syndrome type 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000834332	SCV005270339	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000080898	SCV001740299	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080898	SCV001959776	benign	not specified		no assertion criteria provided	clinical testing