Submissions for variant NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)

gnomAD frequency: 0.00078  dbSNP: rs117707719

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229102	SCV000291075	benign	Fanconi anemia	2024-01-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094389	SCV000396857	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.
Genetic Services Laboratory, University of Chicago	RCV000500741	SCV000597138	benign	not specified	2018-08-03	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000500741	SCV001364634	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573902	SCV001800430	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000500741	SCV001966995	benign	not specified		no assertion criteria provided	clinical testing