Submissions for variant NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)

gnomAD frequency: 0.00416  dbSNP: rs150547487

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085760	SCV000558639	benign	Fanconi anemia	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000767083	SCV000568865	benign	not provided	2021-02-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Previously reported in an individual with breast or ovarian cancer and a family history compatible with a hereditary cancer syndrome (de Garibay et al., 2013); This variant is associated with the following publications: (PMID: 30284473, 26453996, 23211700)
Genetic Services Laboratory, University of Chicago	RCV000480800	SCV000597146	likely benign	not specified	2015-11-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000480800	SCV000605213	uncertain significance	not specified	2017-04-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000989501	SCV001139914	benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731703	SCV001984594	benign	Fanconi anemia complementation group P	2020-03-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001085760	SCV002529269	benign	Fanconi anemia	2020-03-26	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000767083	SCV004144918	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SLX4: BP4, BS1, BS2