Submissions for variant NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)

gnomAD frequency: 0.00019  dbSNP: rs199897550

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205505	SCV000260551	likely benign	Fanconi anemia	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000605780	SCV000730672	likely benign	not specified	2017-08-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000605780	SCV002070620	likely benign	not specified	2020-04-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000205505	SCV002529327	likely benign	Fanconi anemia	2021-12-15	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003927874	SCV004742269	benign	SLX4-related disorder	2019-10-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).