Submissions for variant NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)

gnomAD frequency: 0.00998  dbSNP: rs77718962

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227186	SCV000291089	benign	Fanconi anemia	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094287	SCV000396830	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000500310	SCV000597135	benign	not specified	2020-10-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000500310	SCV000605207	benign	not specified	2017-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001561692	SCV001784338	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094287	SCV004015486	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing