Submissions for variant NM_032444.4(SLX4):c.90C>T (p.Ser30=)

gnomAD frequency: 0.00612  dbSNP: rs118089506

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228985	SCV000291101	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000508388	SCV000605209	benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001120030	SCV001278492	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.
CeGaT Center for Human Genetics Tuebingen	RCV001532269	SCV001747749	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BP7, BS2
GeneDx	RCV001532269	SCV001765925	likely benign	not provided	2021-09-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22383991)
Genetic Services Laboratory, University of Chicago	RCV000508388	SCV002068126	likely benign	not specified	2021-01-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000228985	SCV002529400	benign	Fanconi anemia	2020-07-28	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001120030	SCV002811168	likely benign	Fanconi anemia complementation group P	2021-07-26	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001120030	SCV004015489	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001532269	SCV005217348	likely benign	not provided		criteria provided, single submitter	not provided
Leiden Open Variation Database	RCV000508388	SCV001364618	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.