Submissions for variant NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)

gnomAD frequency: 0.00848  dbSNP: rs138615800

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195173	SCV000248936	benign	not specified	2016-12-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084146	SCV000291098	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434846	SCV000511458	likely benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV001120029	SCV001278491	benign	Fanconi anemia complementation group P	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001120029	SCV004015502	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000434846	SCV005217345	likely benign	not provided		criteria provided, single submitter	not provided
Leiden Open Variation Database	RCV000195173	SCV001364644	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)	RCV000195173	SCV001799089	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000195173	SCV001807277	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000195173	SCV001968624	benign	not specified		no assertion criteria provided	clinical testing