Submissions for variant NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)

gnomAD frequency: 0.00059  dbSNP: rs144273492

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461671	SCV000558624	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000504053	SCV000597160	likely benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116863	SCV001274997	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003418213	SCV004144906	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BS2
Leiden Open Variation Database	RCV000504053	SCV001364658	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.