ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)

gnomAD frequency: 0.00776  dbSNP: rs143818824
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194162 SCV000248935 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000204168 SCV000259486 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000194162 SCV000314946 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094281 SCV000396814 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000442623 SCV000510712 benign not provided 2017-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000442623 SCV001849115 benign not provided 2021-03-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28678401)
Sema4, Sema4 RCV000204168 SCV002529382 benign Fanconi anemia 2020-12-19 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV000442623 SCV004144888 benign not provided 2023-06-01 criteria provided, single submitter clinical testing SLX4: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000194162 SCV001977748 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000194162 SCV001980584 benign not specified no assertion criteria provided clinical testing

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