Submissions for variant NM_032444.4(SLX4):c.3109T>C (p.Leu1037=)

gnomAD frequency: 0.00148  dbSNP: rs58735123

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473257	SCV000558628	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116865	SCV001274999	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001116865	SCV004015515	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001194839	SCV001364656	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.