Submissions for variant NM_032444.4(SLX4):c.339T>C (p.Ser113=)

gnomAD frequency: 0.00061  dbSNP: rs144326379

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000199665	SCV000253632	likely benign	Fanconi anemia	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115435	SCV001273412	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago	RCV001818479	SCV002068115	likely benign	not specified	2021-02-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000199665	SCV002529324	likely benign	Fanconi anemia	2022-01-14	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001579421	SCV003917472	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579421	SCV001807176	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579421	SCV001970823	likely benign	not provided		no assertion criteria provided	clinical testing