Submissions for variant NM_032444.4(SLX4):c.3868C>A (p.His1290Asn)

gnomAD frequency: 0.01345  dbSNP: rs112596894

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243166	SCV000314938	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094383	SCV000396838	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.
Invitae	RCV000307892	SCV000558637	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001709557	SCV001938355	benign	not provided	2019-04-09	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094383	SCV004015498	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing