Submissions for variant NM_032444.4(SLX4):c.1366+11T>C

gnomAD frequency: 0.08654  dbSNP: rs76350200

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245275	SCV000314916	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357049	SCV000396879	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.
Invitae	RCV001521356	SCV001730685	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001610737	SCV001842246	benign	not provided	2019-02-24	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000357049	SCV004015472	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000245275	SCV001364677	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.