ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.*8A>G

gnomAD frequency: 0.08334  dbSNP: rs3751839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249184 SCV000314911 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305992 SCV000396812 benign Fanconi anemia complementation group P 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001618471 SCV001843901 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618471 SCV005293907 benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000249184 SCV001364708 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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.