Submissions for variant NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)

gnomAD frequency: 0.00679  dbSNP: rs114472821

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231886	SCV000291076	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248496	SCV000314931	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094332	SCV000396851	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.
GeneDx	RCV001570692	SCV001795027	likely benign	not provided	2019-06-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000248496	SCV002067971	benign	not specified	2021-03-05	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000248496	SCV001364653	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Center of Medical Genetics and Primary Health Care	RCV001269373	SCV001448725	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001570692	SCV001798565	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000248496	SCV001809019	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001570692	SCV002033958	likely benign	not provided		no assertion criteria provided	clinical testing