Submissions for variant NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)

gnomAD frequency: 0.00302  dbSNP: rs149011965

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000225974	SCV000291083	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094384	SCV000396839	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	RCV001573439	SCV001935036	benign	not provided	2020-03-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22911665)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001573439	SCV002010102	benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001194841	SCV002071724	benign	not specified	2020-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573439	SCV002585542	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BS1, BS2
Leiden Open Variation Database	RCV001194841	SCV001364665	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)	RCV001573439	SCV001799332	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573439	SCV001971761	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001194841	SCV001977666	benign	not specified		no assertion criteria provided	clinical testing