Submissions for variant NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)

gnomAD frequency: 0.01879  dbSNP: rs114014006

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224941	SCV000280728	likely benign	not provided	2015-08-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences	RCV000244058	SCV000314927	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094388	SCV000396856	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	RCV000358566	SCV000558626	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000224941	SCV001941122	benign	not provided	2019-03-24	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094388	SCV004015481	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000244058	SCV001364651	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)	RCV000224941	SCV001799181	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244058	SCV001808227	benign	not specified		no assertion criteria provided	clinical testing