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

gnomAD frequency: 0.00776  dbSNP: rs143818824

Total submissions: 10

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
Invitae	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