ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)

gnomAD frequency: 0.00848  dbSNP: rs138615800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195173 SCV000248936 benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV001084146 SCV000291098 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434846 SCV000511458 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV001120029 SCV001278491 benign Fanconi anemia complementation group P 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001120029 SCV004015502 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000195173 SCV001364644 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000195173 SCV001799089 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000195173 SCV001807277 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000195173 SCV001968624 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.