Submissions for variant NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)

gnomAD frequency: 0.00069  dbSNP: rs141567438

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474038	SCV000547471	likely benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000996183	SCV001150763	uncertain significance	not provided	2016-04-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001336769	SCV001530245	uncertain significance	Fanconi anemia complementation group P	2018-07-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000996183	SCV002009368	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001194853	SCV002070209	uncertain significance	not specified	2018-08-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000474038	SCV002529346	uncertain significance	Fanconi anemia	2021-04-22	criteria provided, single submitter	curation
Leiden Open Variation Database	RCV001194853	SCV001364686	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.