Submissions for variant NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)

gnomAD frequency: 0.00047  dbSNP: rs200742809

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462566	SCV000558644	likely benign	Fanconi anemia	2024-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116862	SCV001274996	uncertain significance	Fanconi anemia complementation group P	2018-01-12	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.
Sema4, Sema4	RCV000462566	SCV002529322	likely benign	Fanconi anemia	2021-01-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001116862	SCV004015507	likely benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003418214	SCV004144905	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003932743	SCV004754604	likely benign	SLX4-related disorder	2019-06-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).