Submissions for variant NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)

gnomAD frequency: 0.00214  dbSNP: rs77021998

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080250	SCV000252880	benign	Fanconi anemia	2024-01-30	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000437114	SCV000511776	likely benign	not provided	2016-10-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000500511	SCV000597132	likely benign	not specified	2016-05-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000500511	SCV000708492	likely benign	not specified	2017-05-10	criteria provided, single submitter	clinical testing
Mendelics	RCV000989491	SCV001139904	benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121624	SCV001280262	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000437114	SCV001950779	benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23840564, 23211700, 27153395, 22383991, 22911665)
Sema4, Sema4	RCV001080250	SCV002529362	likely benign	Fanconi anemia	2020-12-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000437114	SCV004144891	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BS2
Leiden Open Variation Database	RCV000500511	SCV001364698	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)	RCV000437114	SCV001800025	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000437114	SCV001963852	likely benign	not provided		no assertion criteria provided	clinical testing