Submissions for variant NM_032444.4(SLX4):c.231A>G (p.Gln77=)

gnomAD frequency: 0.00038  dbSNP: rs143279888

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227640	SCV000291069	benign	Fanconi anemia	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000247784	SCV000314925	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094250	SCV000396898	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.
Genetic Services Laboratory, University of Chicago	RCV000247784	SCV000597151	benign	not specified	2021-08-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884426	SCV004700752	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BP7