Submissions for variant NM_032444.4(SLX4):c.999C>T (p.Ile333=)

gnomAD frequency: 0.00974  dbSNP: rs7198338

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231759	SCV000291102	benign	Fanconi anemia	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116739	SCV001274867	benign	Fanconi anemia complementation group P	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago	RCV001194835	SCV002068093	benign	not specified	2021-12-20	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001116739	SCV004015497	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001194835	SCV001364649	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.