Submissions for variant NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln)

gnomAD frequency: 0.00921  dbSNP: rs79174372

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229508	SCV000291087	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000242665	SCV000314941	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094328	SCV000396831	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422163	SCV000511056	likely benign	not provided	2017-02-08	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000422163	SCV001823667	likely benign	not provided	2023-02-24	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094328	SCV004015493	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing