Submissions for variant NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)

gnomAD frequency: 0.00575  dbSNP: rs111738042

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086807	SCV000291096	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243677	SCV000314947	likely benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000440447	SCV000511742	likely benign	not provided	2016-07-21	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000243677	SCV000597129	benign	not specified	2016-11-14	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000243677	SCV000864327	likely benign	not specified	2017-04-19	criteria provided, single submitter	clinical testing	BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Illumina Laboratory Services, Illumina	RCV001121536	SCV001280163	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	RCV000440447	SCV001795002	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28051113, 28717660, 22401137, 28202063, 21805310)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000440447	SCV002009257	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001086807	SCV002529385	likely benign	Fanconi anemia	2021-03-02	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001121536	SCV004015491	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000440447	SCV004144886	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BS2
Leiden Open Variation Database	RCV000243677	SCV001364707	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.