ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)

gnomAD frequency: 0.01879  dbSNP: rs114014006
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224941 SCV000280728 likely benign not provided 2015-08-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000244058 SCV000314927 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094388 SCV000396856 benign Fanconi anemia complementation group P 2018-01-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000358566 SCV000558626 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000224941 SCV001941122 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094388 SCV004015481 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224941 SCV005215140 likely benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000244058 SCV001364651 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) RCV000224941 SCV001799181 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000244058 SCV001808227 benign not specified no assertion criteria provided clinical testing

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