Submissions for variant NM_032444.4(SLX4):c.2328-9G>C

gnomAD frequency: 0.00188  dbSNP: rs73505419

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532645	SCV000626408	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001194824	SCV002069013	likely benign	not specified	2020-12-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000532645	SCV002529298	likely benign	Fanconi anemia	2021-11-26	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002490948	SCV002794556	likely benign	Fanconi anemia complementation group P	2021-09-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935402	SCV004752795	likely benign	SLX4-related disorder	2020-01-02	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).
Breakthrough Genomics, Breakthrough Genomics	RCV004705643	SCV005215145	likely benign	not provided		criteria provided, single submitter	not provided
Leiden Open Variation Database	RCV001194824	SCV001364628	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.