Submissions for variant NM_032444.4(SLX4):c.2844G>A (p.Ala948=)

gnomAD frequency: 0.00053  dbSNP: rs376877866

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249035	SCV000314928	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094334	SCV000396855	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000310391	SCV000558647	benign	Fanconi anemia	2024-01-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000249035	SCV002064983	likely benign	not specified	2017-09-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000310391	SCV002529312	likely benign	Fanconi anemia	2022-02-26	criteria provided, single submitter	curation