ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)

gnomAD frequency: 0.41942  dbSNP: rs4244612
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080899 SCV000112801 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080899 SCV000310044 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834333 SCV000976102 benign not provided 2018-05-26 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 RCV001520358 SCV001729431 benign Baller-Gerold syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520358 SCV002033515 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795127 SCV002033516 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795128 SCV002033518 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001795128 SCV004017274 benign Rothmund-Thomson syndrome type 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834333 SCV005270338 benign not provided criteria provided, single submitter not provided
ITMI RCV000080899 SCV000086178 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080899 SCV001741379 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080899 SCV001958701 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.