Submissions for variant NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)

gnomAD frequency: 0.00031  dbSNP: rs149584080

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234592	SCV000291071	likely benign	Fanconi anemia	2024-01-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764059	SCV000895013	uncertain significance	Fanconi anemia complementation group P	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000764059	SCV001280482	uncertain significance	Fanconi anemia complementation group P	2017-05-12	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.
Sema4, Sema4	RCV000234592	SCV002529306	uncertain significance	Fanconi anemia	2022-02-11	criteria provided, single submitter	curation
Revvity Omics, Revvity	RCV000764059	SCV003823919	uncertain significance	Fanconi anemia complementation group P	2022-11-28	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001194825	SCV001364630	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.